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  2. www.spandidos-publications.com www.spandidos-publications.com
    Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy
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    1. ClingenBaseline 06 Nov 2026

      Table III

      Case 748: Italian, Female, 16yo

      DiseaseAssertion: HCM

      FamilyInfo: Family history of HCM and sudden cardiac death

      CasePresentingHPOs: HP:0001712, HP:0004756, HP:0005110, HP:0001716 (left ventricular hypertrophy, ventricular tachycardia, atrial fibrillation, Wolff-Parkinson-White syndrome)

      CaseHPOFreeText: maximum left ventricular wall thickness of ≥15 mm, LVWT = 17mm, automatic implantable cardioverter defibrillator, LV ejection fraction = 60%

      CasePreviousTesting: echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1), additional testing: (GLA, LAMP2, PRKAG2), additional genes added with NGS: (TNNC1, MYH6, MYOM1, MYOZ2, ANKRD1, VCL, CALR3, CAV3)

      CaseGenotypingMethod: Genomic DNA extracted from peripheral leukocytes, Sanger sequencing (73 samples), Next-gen sequencing (19 samples)

      Variant: NM_000257.3(MYH7):c.5287G>A (p.Ala1763Thr)

      ClinVar: 177846, https://www.ncbi.nlm.nih.gov/clinvar/variation/177846/

      gnomAD: 0.00007423, https://gnomad.broadinstitute.org/variant/14-23884476-C-T

      MultipleGeneVariants:

      (1) LAMP2 Variant:

      Variant: NM_002294.2(LAMP2):c.928G>A (p.Val310Ile)

      ClinVar: 9982, https://www.ncbi.nlm.nih.gov/clinvar/variation/9982/

      gnomAD: n/a

      Individual CaseInfo HCM FamilyInfo FullPreviousTesting AdditionalPreviousTesting ClinVarID:177846 MultipleGeneVariants AutosomalDominant inferred_gene_hgnc:7577 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    spandidos-publications.com/ijmm/38/4/1111
  3. www.ahajournals.org www.ahajournals.org
    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 06 Nov 2026

      CaseMYH7-2: 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.5287G>A (p.Ala1763Thr)

      ClinVar: 177846 https://www.ncbi.nlm.nih.gov/clinvar/variation/177846/

      gnomAD: European (Non-Finnish) 1.238e-4, Overall 7.423e-5 https://gnomad.broadinstitute.org/variant/14-23884476-C-T

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion HCM SupplementalData ClinVarID:177846 inferred_gene_hgnc:7577 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666