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"evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA015952/MONDO:0005045/002/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA015952/MONDO:0005045/002/ci/CA015952/MONDO:0005045/002.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50002_EP155190197442076", "id": "CG-PCER-AGENT:CG_50002_EP155190197442076", "type": "Agent" }, "comments": "Variant has been identified in:\n6 individuals with HCM in the literature (Richard 2003 PMID:12707239; Bos 2014 PMID:24793961; Homburger 2016 PMID:27247418; Walsh 2017 PMID: 27532257; Ho 2018 PMID:30297972).\n\n8 individuals with HCM from internal data (2 with other disease-causing variants; splice and nonsense in MYBPC3), 1 RCM with another MYH7 missense considered path by this VCEP), &\n5 DCM (2 have TTN LP variants)(Ambry pers. comm.; GeneDx pers. comm.; LMM pers. comm.; OMGL pers. comm)\n\nit was also seen in 1 LVNC requiring transplant with 2 pathogenic MYBPC3 variants, 1 Brugada syndrome, 1 myofibrillar myopathy, 1 patient with distal & axial myopathy, (Hertz 2014 PMID:25467552; Evilä 2016 PMID:26627873; Chanson 2016 PMID:26969127; Liu 2020 PMID:31918855).\n\nLiterature search complete: ClinVar, Google, HGMD\n\nINTERNAL DATA:\nAmbry\t1 HCM, 1 GI symptoms, heart disease, renal issues; HCM proband with MYBPC3 c.3330+1G>T VLP\nGeneDx\t3 HCM, 3 DCM; 1 of the HCM probands has no clinical information provided to support the HCM diagnosis. 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Author William Wallefeld, University of Western Australia, primary supervisor Dr Nigel Liang. Results not sufficient to apply this criteria.", "contributionDate": { "date": "2026/6/4", "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": "CA015952/MONDO:0005045/002/ci/CA015952/MONDO:0005045/002.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA015952/MONDO:0005045/002/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA015952/MONDO:0005045/002/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA015952/MONDO:0005045/002/0/1828", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA015952/MONDO:0005045/002", "metadata": { "created": "2026-06-04T21:48:27.576Z", "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, 04 Jun 2026 21:48:27 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "a16a1f02-844a-4b61-bd74-71c8230a85de", "variant": { "@id": "https://reg.genome.network/allele/CA015952", "id": "CAR:CA015952", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000257.3:c.5329G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000257.3(MYH7):c.5329G>A (p.Ala1777Thr)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-06-06T02:01:34.293Z" } }, "status": { "code": 200, "name": "OK" } }