{ "data": [ { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://erepo.genome.network/evrepo/api/summary/classification/7b52166b-8d2a-4c9f-b5e9-f39c4eca57b6/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1795775085", "label": "ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0100150", "id": "MONDO:0100150", "label": "RYR1-related myopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023822/MONDO:0100150/179/el/0/1669", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023822/MONDO:0100150/179/ei/1/1670", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "contributionDate": { "date": "2025/4/3", "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://erepo.genome.network/evrepo/api/interpretation/CA023822/MONDO:0100150/179/el/0/1669/1671", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA023822/MONDO:0100150/179/ci/CA023822/MONDO:0100150/179.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50031_EP172779037880653", "id": "CG-PCER-AGENT:CG_50031_EP172779037880653", "type": "Agent" }, "comments": "The variant has been reported in trans with a second pathogenic RYR1 variant or a rare variant of uncertain significance in RYR1 in 10 probands with clinical features of congenital myopathy (PMID: 20583297; Synnovis internal data SCV001468505.1; Invitae internal data SCV000659742.9). Total points per the PM3 chart from laboratory data and Patient 2 of PMID: 20583297 using submissions from Clinvar is 7 points. 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"CG-PCER-VARINT:CA023822/MONDO:0100150/179/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA023822/MONDO:0100150/179/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA023822/MONDO:0100150/179/0/1702", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA023822/MONDO:0100150/179", "metadata": { "created": "2025-04-03T15:16:19.004Z", "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, 03 Apr 2025 15:16:18 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "7b52166b-8d2a-4c9f-b5e9-f39c4eca57b6", "variant": { "@id": "https://reg.genome.network/allele/CA023822", "id": "CAR:CA023822", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000540.3:c.10204T>G" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-04-04T15:09:29.053Z" } }, "status": { "code": 200, "name": "OK" } }