1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
    1
    1. ClingenBaseline 28 Oct 2026
      24-year-old male with a family

      Case#:24-year-old male

      DiseaseAssertion:non-obstructive HCM and long QTc

      FamilyInfo:family history of long QT (mother and maternal grandmother), (family pedigree in Fig. 2)

      ParentalTesting:Sanger sequencing done in the father confirming the paternal origin of the variant.

      CasePresentingHPOs:HP:0001712, HP:0001657, HP:0005135

      CaseNotHPOs:HP:0001654, HP:0006673

      CasePreviousTesting: Cardiac MRI, Electrocardiogram, echocardiogram

      Genotyping Method:Next Generation Sequencing

      FunctionalAnalysis:Pathogenic missense variant

      Variant:NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)

      ClinVar:177694

      CAID:CA022019

      gnomAD:chr19-55151875-G-C

      Gene:TNNI3 HGNC:11947 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense FamilyInfo ClinVarID:177694 CAID:CA022019 MultipleGeneVariants inferred_gene_hgnc:11947 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC7985525/