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"id": "CG-PCER-AGENT:CG_50027_EP162093598185344", "type": "Agent" }, "comments": "The m.3733G>A (p.E143K) variant in MT-ND1 has been reported in 4 individuals with primary mitochondrial disease who had features consistent with LHON (3/4) and LHON-plus (1/4); (PS4_moderate; PMIDs: 15505787, 27177320, 29387390).", "contributionDate": { "date": "2022/3/24", "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": "CA340950/MONDO:0044970/014/ci/CA340950/MONDO:0044970/014.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA340950/MONDO:0044970/014/0/1699/1701", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA340950/MONDO:0044970/014/1/1700", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA340950/MONDO:0044970/014/0/1699", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA340950/MONDO:0044970/014", "metadata": { "created": "2026-03-20T19:05:17.513Z", "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 19:05:17 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.1" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "daa1d3fa-2de4-4e31-b8ad-af651dacd90e", "variant": { "@id": "https://reg.genome.network/allele/CA340950", "id": "CAR:CA340950", "relatedContextualAllele": [ { "alleleName": [ { "name": "NC_012920.1:m.3733G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "m.3733G>A" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://genboree.org/evrepo/api/summarysrvc", "when": "2026-06-17T02:36:19.462Z" } }, "status": { "code": 200, "name": "OK" } }