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  2. www.jstage.jst.go.jp www.jstage.jst.go.jp
    Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026
      HCM003

      CaseHCM003: 31 yrs report, Vietnam, Asian

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002875, HP:0031295, HP:0006698, HP:0001705 (Exertional dyspnea, Left atrial enlargement, Dilatation of the ventricular cavity, Right ventricular outlet obstruction)

      HPOsFreeText: Maximal LV thickness 29 mm

      CaseNotHPOs: HP:0005110, HP:0001297, HP:0004756 (Atrial fibrillation, Stroke, Ventricular tachycardia)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: The gene panel included 10 sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1, TNNC1, MYH6), 9 genes encoding Z-disk components and Ca2+ homeostasis factors (LDB3, CSRP3, TCAP, VCL, ACTN2, MYOZ2, NEXN, JPH2, PLN), and 4 genes involved in HCM phenocopies (GLA, LAMP2, PRKAG2, TTR), All probands had left ventricular wall thickness >= 15 mm and no other diseases that can cause secondary hypertrophy

      CaseGenotypingMethod: The coding region, flanking sequences, and untranslated regions of each gene were enriched by LC-PCR, amplified, and sequenced on the Illumina MiSeq or MiniSeq platform. Identified variants were then filtered for pathogenicity and confirmed by Sanger sequencing.

      Variant: NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)

      ClinVar: 164342 https://www.ncbi.nlm.nih.gov/clinvar/variation/164342/

      gnomAD: Not in gnomAD

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:AutosomalDominant PreviousTesting:Full PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:164342 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    jstage.jst.go.jp/article/circj/83/9/83_CJ-19-0190/_html/-char/en
  3. www.ahajournals.org www.ahajournals.org
    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
    1
    1. ClingenBaseline 21 Oct 2026

      CaseMYH7-25: Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: 1 other proband shares 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.2207T>C (p.Ile736Thr)

      ClinVar: 164342 https://www.ncbi.nlm.nih.gov/clinvar/variation/164342/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion HCM SupplementalData ClinVarID:164342 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666