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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin
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    1. ClingenBaseline 02 Nov 2026
      The proband

      Case#: Female, Hispanic, 4

      DiseaseAssertion:Dilated cardiomyopathy

      FamilyInfo: Uncle who died at a young age of sudden cardiac death.

      ParentalTesting:

      CasePresentingHPOs: HP:0001638

      "severe decompensated cardiomyopathy at age 4."

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText:NR

      CasePreviousTesting: NR

      Genotyping Method: commercial genetic testing and Sanger sequencing

      FunctionalAnalysis:

      Variant: NM_001276345.2:c.*187C>T

      ClinVar: NR

      CAID:CA2649785730

      gnomAD:NR

      AdditionalInfo:

      FunctionalAnalysis FamilyInfo Gene:TNNT2 HGNC:11949 CAID:CA2649785730 Zygosity:NoZygosityAssertion Variant:Missense DiseaseEntity:DCM InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4620603/