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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
    1
    1. ClingenBaseline 07 Nov 2026
      The proband

      Case#: Female, 6, non-Hispanic white

      DiseaseAssertion: Dilated Cardiomyopathy

      FamilyInfo: Father and Paternal uncle diagnosed with DCM at age 34.

      ParentalTesting: Her father underwent cardiac screening based on family history several years later at age 34

      CasePresentingHPOs: HP:0001640

      CaseHPOFreeText: NA

      CaseNotHPOs: NA

      CaseNotHPOFreeText: Acute viral illness and gastroenteritis

      CasePreviousTesting: NR

      Genotyping Method: Sanger Sequencing

      FunctionalAnalysis: NR

      Variant: NM_001276345.2:c.149A>G

      ClinVar: 2005620

      CAID: CA344207232

      gnomAD: 1:201337304 T / C

      AdditionalInfo: NA

      CaseInfo HGNC:11949 Gene:TNNT2 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:NoZygosityAssertion ClinVarID:2005620 CAID:CA344207232 FamilyInfo inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3072577/