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    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 21 Oct 2026

      CaseMYH7-6: Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: 2 other probands have this genotype

      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.4135G>A (p.Ala1379Thr)

      ClinVar: 42993 https://www.ncbi.nlm.nih.gov/clinvar/variation/42993/

      gnomAD: Latino 2.822e-5, Overall 3.535e-6 https://gnomad.broadinstitute.org/variant/14-23887453-C-T

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion HCM SupplementalData ClinVarID:42993 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666