{ "data": { "@context": "https://genboree.org/evrepo/api/context", "@id": "https://genboree.org/evrepo/api/summary/classification/9c3b9acb-015c-45ad-956e-7b10bbf078bd/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/635003679", "label": "ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0005338", "id": "MONDO:0005338", "label": "open-angle glaucoma", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1765", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1766", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "An established LP or P variant causing this same amino acid change has not been identified.\n", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1765", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1663", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1664", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This variant has not been identified de novo.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1663", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1699", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1700", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "7 probands with JOAG or POAG have been reported carrying this variant (PMIDs: 17893668, 9863594, 9832047), which met PS4_Moderate (≥ 6 probands).", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1699", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1648", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1649", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "31 segregations in 6 families, with juvenile or primary open angle glaucoma (JOAG or POAG), have been reported (PMIDs: 17893668, 9863594, 9832047), which fulfilled PP1_Strong (≥ 7 meioses in > 1 family).\n", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1648", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1684", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1685", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This criterion was not met as PP3 has been met.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1684", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1777", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1778", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This criterion was not met as PM2_Supporting has been met.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1777", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1804", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1805", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This criterion was not met as PM2_Supporting has been met.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1804", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1588", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1589", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This criterion was not met as PS3_Moderate has been met.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1588", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1654", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1655", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": 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"EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1753", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1754", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1753/1755", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The REVEL score = 0.97, which met the ≥ 0.932 threshold for PP3_Strong, predicting a damaging effect on MYOC function. ", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1753/1755", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1754", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1753", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1780", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1781", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "Two other missense variants (c.1138G>C, p.Asp380His, Grantham score = 81, ClinVar ID: 7961 and c.1139A>G, p.Asp380Gly Grantham score = 94, ClinVar ID: 1342964) in the same codon have been classified as likely pathogenic for juvenile open angle glaucoma by the ClinGen Glaucoma VCEP. The c.1139A>C, p.Asp380Ala variant has a higher Grantham score (= 126) than the previously classified amino acid changes, was not predicted to affect splicing as assessed with SpliceAI (≤ 0.2), and met PP3, meeting the conditions for PM5 to apply.\nThis variant would still be classified as pathogenic without the use of PM5 and was used to apply PM5 to variant MYOC c.1138G>T, p.Asp380Tyr which is located at the same amino acid residue.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1780", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1591", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1592", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1591/1593", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "This variant does not cause a protein length change.", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1591/1593", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1592", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1591", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1636", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1637", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The highest minor allele frequency of this variant was in the European (non-Finnish) genetic ancestry group of gnomAD (v4.1.0) = 0.0000008 (1 allele out of 1,179,992), which met the ≤ 0.0001 threshold set for PM2_Supporting in a genetic ancestry group of at least 10,000 alleles.\n", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/CA343724571/MONDO:0005338/019.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1636", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1825", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/ei/1/1826", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA343724571/MONDO:0005338/019/el/0/1825/1827", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/EV000001945", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is unstable.\nThe assay in this study meets the OddsPath threshold for PS3_Moderate (> 4.3) (when combined with PMIDs: 21612213, 23129764, 25524706, 36579626).", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/EV000001945", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/20334347", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/EV000001895", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is unstable. \nNote: this is a duplicated result from PMID: 23129764\nThe assay in this study meets the OddsPath threshold for PS3_Moderate (> 4.3) (when combined with PMIDs: 20334347, 21612213, 23129764, 36579626)", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/EV000001895", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25524706", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/EV000001894", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is unstable.\nThe assay in this study meets the OddsPath threshold for PS3_Moderate (> 4.3) (when combined with PMIDs: 20334347, 21612213, 25524706, 36579626)", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/EV000001894", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/23129764", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/EV000001897", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is unstable. \nThe assay in this study does not meet the OddsPath threshold for PS3_Supporting (> 2.1).", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/EV000001897", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24333014", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/EV000001896", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is unstable.\nThe assay in this study meets the OddsPath threshold for PS3_Moderate (> 4.3) (when combined with PMIDs: 20334347, 23129764, 25524706, 36579626)", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/EV000001896", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/21612213", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA343724571/MONDO:0005338/019/ci/doc", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50053_EP164427276210985", "id": "CG-PCER-AGENT:CG_50053_EP164427276210985", "type": "Agent" }, "comments": "The D380A protein is insoluble.\nThe assay in this study does not meet the OddsPath threshold for PS3_Supporting (> 2.1). ", "contributionDate": { "date": "2026/1/12", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA343724571/MONDO:0005338/019/ci/doc", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/16297911", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1825/1827", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/1/1826", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019/0/1825", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA343724571/MONDO:0005338/019", "metadata": { "created": "2026-03-20T23:44:04.572Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 20 Mar 2026 23:44:04 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "9c3b9acb-015c-45ad-956e-7b10bbf078bd", "variant": { "@id": "https://reg.genome.network/allele/CA343724571", "id": "CAR:CA343724571", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000261.2:c.1139A>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000261.2:c.1139A>C" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://genboree.org/evrepo/api/summarysrvc", "when": "2026-06-10T05:41:52.882Z" } }, "status": { "code": 200, "name": "OK" } }