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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy
    2
    1. ClingenBaseline 08 Nov 2026
      AD-FDC27

      Case#: AD-FDC27, II:11, male, age 35

      DiseaseAssertion: Familial dilated cardiomyopathy

      FamilyInfo: second multigenerational DCM family

      CasePresentingHPOs: HP:0001644 HP:4000141

      CaseHPOFreeText: Dyspnea on exertion; left ventricular dilation; severe systolic dysfunction

      Genotyping Method: Whole-exome sequencing using Agilent SureSelect 50 Mb exome; HiSeq 2000 sequencing followed by Sanger sequencing confirmation

      Variant: TNNT2 c.517C>T (p.Arg173Trp); missense single-nucleotide variant; heterozygous

      ClinVar: 228409; Pathogenic

      CAID: CA10576372

      CAID:CA10576372 ClinVar:228409 Variant:Missense Zygosity:heterozygous Gene:TNNT2 inferred_gene_hgnc:11949 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 08 Nov 2026
      AD-FDC1

      Case#: AD-FDC1, IV:14, male, age 45

      DiseaseAssertion: Familial dilated cardiomyopathy

      FamilyInfo: multigenerational DCM family

      CasePresentingHPOs: HP:0001644 HP:4000141 HP:0012664

      Genotyping Method: Whole-exome sequencing using Agilent SureSelect 50 Mb exome; HiSeq 2000 sequencing followed by Sanger sequencing confirmation

      Variant: TNNT2 c.517C>T (p.Arg173Trp); missense single-nucleotide variant; heterozygous

      ClinVar: 228409

      CAID: CA10576372

      CAID:CA10576372 ClinVar:228409 Variant:Missense Zygosity:heterozygous CaseInfo Gene:TNNT2 inferred_gene_hgnc:11949 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3812167/