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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
    1
    1. ClingenBaseline 10 Nov 2026
      Lys202Gln

      Case#: Proband C.1. Age, sex and ancestry NR.

      DiseaseAssertion: Familial dilated cardiomyopathy.

      FamilyInfo: Three people in the family had DCM and carried the variant. See Table 2.

      ParentalTesting: NR

      CasePresentingHPOs: HP:0001644 (Dilated cardiomyopathy)

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: The authors used Sanger sequencing in both directions on DNA from blood.

      FunctionalAnalysis: NR

      Variant: NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)

      ClinVar: 31892

      CAID: CA018057

      gnomAD: No record found in gnomAD v4.1.

      AdditionalInfo: PMID 20215591. The case is in Table 2 and the TPM1 section of the Results. The authors thought the variant likely caused DCM in this family.

      CaseInfo Gene:TPM1 HGNC:12010 DiseaseEntity:DCM InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Variant:Missense ClinVarID:31892 CAID:CA018057 Family Info inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2908892/