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    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
    2
    1. ClingenBaseline 24 Oct 2026
      WJ

      CaseWJ: 30 years diagnosis, Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: One affected relative Brother (index case) died suddenly aged 34 y (MYH7 p.Asp778Val only)

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: Maximum left ventricular hypertrophy at 18 mm

      CaseNotHPOs: N/A

      NotHPOsFreeText: Sudden cardiac death event

      CaseAddInfo: N/A

      CasePreviousTesting: See Table 1

      CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

      Variant1: NM_000257.3:c.2333A>T (p.Asp778Val)

      ClinVar: 454354 https://www.ncbi.nlm.nih.gov/clinvar/variation/454354/

      gnomAD: Not in gnomAD

      Variant2: NM_000257.3:c.5452C>T (p.Arg1818Trp)

      ClinVar: 217826 https://www.ncbi.nlm.nih.gov/clinvar/variation/217826/

      gnomAD: Latino 5.782e-5, Overall 7.956e-6 https://gnomad.broadinstitute.org/variant/14-23884311-G-A

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion SupplementalData HCM FamilyInfo ClinVarID:454354 ClinVarID:217826 inferred_gene_hgnc:10969 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    2. ClingenBaseline 23 Oct 2026

      CaseMYH7-1: Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: See Table 1

      CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

      Variant: NM_000257.3:c.5452C>T (p.Arg1818Trp)

      ClinVar: 217826 https://www.ncbi.nlm.nih.gov/clinvar/variation/217826/

      gnomAD: Latino 5.782e-5, Overall 7.956e-6 https://gnomad.broadinstitute.org/variant/14-23884311-G-A

      Individual CaseInfo Variant GenotypingMethod NoInheritanceAssertion HCM FullPreviousTesting AdditionalPreviousTesting SupplementalData ClinVarID:217826 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666