1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling
    1
    1. ClingenBaseline 09 Nov 2026
      a male patient who was found to carry a novel pathogenic missense mutation in the MYBPC3 gene (chr11:4737288835, NM_000256.3: c.194 C > T, p.T65M)

      Case#: a male in the age range of 36-40

      DiseaseAssertion: Dilated cardiomyopathy and generated hiPSC-CMS

      FamilyInfo: not reported

      ParentalTesting: not reported

      CasePresentingHPOs: HP:0002875, HP:0031352 Exertional dyspnea and chest tightness

      CaseHPOFreeText: nocturnal dyspnea and reduced exercise tolerance

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: echocardiogram and electrocardiograms

      Genotyping Method: peripheral blood was extracted and use to sequence the entire genome

      FunctionalAnalysis: hiPSCs were looked at in this case

      Variant: NM_000256.3: c.194 C > T (p.Thr65Met)

      ClinVar:407324

      CAID: CA047700

      gnomAD: 11-47372888-G-A

      AdditionalInfo:F

      CaseInfo Gene:MYBPC3 HGNC:7551 InheritancePattern:AutosomalDominant DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous “ClinVarID:407324” “CAID:CA047700" FunctionalAnalysis inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12932816/