{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/b17ae703-89d3-413b-b547-8e1701d4e055/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637577", "label": "ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2,\nKCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2.0", "type": "VariantPathogenicityInterpretationGuideline", "url": "https://clinicalgenome.org/site/assets/files/7814/clingen_hl_acmg_specifications_cdh23_coch_gjb2_kcnq4_myo6_myo7a_slc26a4_tecta_ush2a_v2.pdf", "version": "2.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0019497", "id": "MONDO:0019497", "label": "nonsyndromic genetic deafness", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": 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concomitant vestibular dysfunction.", "contributionDate": { "date": "2026/9/30", "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": "CA389344544/MONDO:0019497/005/ci/CA389344544/MONDO:0019497/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344544/MONDO:0019497/005/el/0/1621", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344544/MONDO:0019497/005/ei/1/1622", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2026/9/30", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0056", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0056", "label": "PM5", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA389344544/MONDO:0019497/005/el/0/1621/1623", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA389344544/MONDO:0019497/005/ci/CA389344544/MONDO:0019497/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Two different missense variant c.259G>T (p.Gly87Trp) and c.260G>T (p.Gly87Val) at the same amino acid position have been classified Likely-Pathogenic by the ClinGen HL-VCEP.", "contributionDate": { "date": "2026/9/30", "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": "CA389344544/MONDO:0019497/005/ci/CA389344544/MONDO:0019497/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/0/1621/1623", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/1/1622", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005/0/1621", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA389344544/MONDO:0019497/005", "metadata": { "created": "2026-10-15T19:09:14.130Z", "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": "Thu, 15 Oct 2026 19:09:14 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26332-9", "id": "LN:LA26332-9", "label": "Likely Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "b17ae703-89d3-413b-b547-8e1701d4e055", "variant": { "@id": "https://reg.genome.network/allele/CA389344544", "id": "CAR:CA389344544", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004086.3:c.260G>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004086.3(COCH):c.260G>C (p.Gly87Ala)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-29T02:17:27.636Z" } }, "status": { "code": 200, "name": "OK" } }