4 Matching Annotations
  1. Last 7 days
  2. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy
    2
    1. ClingenBaseline 24 Oct 2026

      Supplementary Material 4

      Case M-24: Japanese

      DiseaseAssertion: idiopathic cardiomyopathy (HCM and DCM)

      CasePreviousTesting: Clinical evaluation, chest radiography, electrocardiography, echocardiography, cardiac catheterization, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

      CaseGenotypingMethod: 8 sarcomeric genes amplified from genomic DNA via PCR then screened using bidirectional direct sequencing

      Variant: NM_000257.3(MYH7):c.2546T>C (p.Met849Thr)

      ClinVar: 42914, https://www.ncbi.nlm.nih.gov/clinvar/variation/42914/

      gnomAD: n/a

      Individual CaseInfo CMP DiseaseAssertion FullPreviousTesting NoInheritanceAssertion ClinVarID:42914 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 23 Oct 2026

      Supplementary Material 4

      Case M-23: Japanese

      DiseaseAssertion: idiopathic cardiomyopathy (HCM and DCM)

      CasePreviousTesting: Clinical evaluation, chest radiography, electrocardiography, echocardiography, cardiac catheterization, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1)

      CaseGenotypingMethod: 8 sarcomeric genes amplified from genomic DNA via PCR then screened using bidirectional direct sequencing

      Variant: NM_000257.3(MYH7):c.2546T>C (p.Met849Thr)

      ClinVar: 42914, https://www.ncbi.nlm.nih.gov/clinvar/variation/42914/

      gnomAD: n/a

      Individual CaseInfo CMP DiseaseAssertion FullPreviousTesting NoInheritanceAssertion ClinVarID:42914 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00380-016-0920-0
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
    1
    1. ClingenBaseline 23 Oct 2026

      CasePT-80: United States

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001650, HP:0001658 (Aortic valve stenosis, Myocardial infarction)

      NotHPOsFreeText: N/A

      CaseAddInfo:

      CaseGenotypingMethod: DNA was collected from the participants using blood samples. 18 genes suspected on contributing to HCM were targeted and sequenced. The variants were then located and filtered for pathogenicity.

      Variant: NM_000257.3:c.2546T>C (p.Met849Thr)

      ClinVar: 42914 https://www.ncbi.nlm.nih.gov/clinvar/variation/42914/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod AutosomalDominant HCM FullPreviousTesting AdditionalPreviousTesting SupplementalData ClinVarID:42914 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5679632/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
    1
    1. ClingenBaseline 22 Oct 2026

      CaseMYH7-2: Japan, Asian

      CasePresentingHPOs: HP:0001639, HP:0006685 (Hypertrophic cardiomyopathy, Endomyocardial fibrosis)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo:

      CaseGenotypingMethod: Genomic DNA was extracted from whole blood from each proband. They each had 95 genes associated with DCM, HCM, and other inherited cardiovascular diseases sequenced with a panel, including both the exons and spicing regions. Variants were then filtered for rarity and pathogenicity.

      Variant: NM_000257.3:c.2546T>C (p.Met849Thr)

      ClinVar: 42914 https://www.ncbi.nlm.nih.gov/clinvar/variation/42914/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod HCM FullPreviousTesting AdditionalPreviousTesting SupplementalData ClinVarID:42914 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5792481/