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  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
    1
    1. ClingenBaseline 21 Oct 2026

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      VariantPreviousTesting: ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, CAV3, GLA, MYL2, MYL3, MYOZ2, PRKAG2, and TTR were all tested via NGS.

      VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of the 760 HCM probands for variants within exons and in +/- 10 nucleotides within the flanking introns of the genes provided above. These variants were then interpreted and filtered for pathogenicity.

      VariantAddInfo: Seen in two HCM probands

      Variant: NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)

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

      gnomAD: Not in gnomAD

      Variant DiseaseEntity:HCM SupplementalData ClinVarID:14107 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S152515781830357X
  3. 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
    2
    1. ClingenBaseline 21 Oct 2026

      Case#: Consequence 4 Table 1 in Data Supplement (1 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.2156G>A (p.Arg719Gln)

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

      CAID: n/a

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:14107 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026

      Case#: Consequence 4 Table 1 in Data Supplement (1 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.2156G>A (p.Arg719Gln)

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

      CAID: n/a

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:14107 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