3 Matching Annotations
  1. Oct 2026
  2. www.ahajournals.org www.ahajournals.org
    Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Imaging
    3
    1. ClingenBaseline 24 Oct 2026

      CaseMYH7-4: N/A

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CaseGenotypingMethod: Testing for all 8 sarcomeric genes, plus GLA, LAMP2, and PRKAG2 was initiated in all probands. After the direct sequencing, the variants were filtered for pathogenicity and classified.

      Variant: NM_000257.3:c.2156G>A (p.Arg719Gln)

      ClinVar: 140107 https://www.ncbi.nlm.nih.gov/clinvar/variation/14107/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting AutosomalDominant HCM SupplementalData ClinVarID:14125 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026

      CaseMYH7-3: N/A

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: 3 other probands share this genotype

      CaseGenotypingMethod: Testing for all 8 sarcomeric genes, plus GLA, LAMP2, and PRKAG2 was initiated in all probands. After the direct sequencing, the variants were filtered for pathogenicity and classified.

      Variant: NM_000257.3:c.2717A>G (p.Asp906Gly)

      ClinVar: 14125 https://www.ncbi.nlm.nih.gov/clinvar/variation/14125/

      gnomAD: European (Non-Finnish) 8.792e-6, Overall 3.977e-6 https://gnomad.broadinstitute.org/variant/14-23893321-T-C

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting AutosomalDominant HCM SupplementalData ClinVarID:14125 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    3. ClingenBaseline 21 Oct 2026

      Case#: Consequence 3 Table 1 in Data Supplement (4 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)

      ClinVar: 14125 https://www.ncbi.nlm.nih.gov/clinvar/variation/14125/

      CAID: n/a

      gnomAD: 0.000008792 European (non-Finnish) https://gnomad.broadinstitute.org/variant/14-23893321-T-C

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:14125 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:RefSeq UNC Biocuration Core
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    ahajournals.org/doi/full/10.1161/CIRCIMAGING.116.005311