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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Combinatorial interactions of genetic variants in human cardiomyopathy
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    1. ClingenBaseline 02 Nov 2026
      he proband initially presented with severe heart failure and required heart transplantation at age 14

      Case#: Patient A

      DiseaseAssertion: Dilated Cardiomyopathy (DCM)

      FamilyInfo: Large multigenerational family with DCM. Six family members identified. TPM1 and VCL variants are connected to disease.

      ParentalTesting: Both parents presented with DCM and TPM1 variant c.97G>A.[p.glu33Lys, p.E33K].

      CasePresentingHPOs: HP:0001644 HP:0012664 HP:0001635

      CaseHPOFreeText: severe heart failure and required heart transplant. Left ventricular ejection fraction.

      CaseNotHPOs:unkown

      CaseNotHPOFreeText: unkown

      CasePreviousTesting: unkown

      Genotyping Method: PCR amplification & Sanger sequencing.

      FunctionalAnalysis: functional data support that TPM1 and VCL variants act synergistically to impact cardiomyocyte contractility and sarcomeric organization and suggest that together these variants may perturb sarcomeric–costameric interactions.

      Variant: TPM1 c.97G>A (p.Glu33Lys; E33K)

      ClinVar: not found

      CAID: CA018447

      gnomAD: not reported

      AdditionalInfo:

      TPM1 DCM CAID:CA018447 inferred_gene_hgnc:12010 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6433174/