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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026
      MYH7-R1053Q was found in 17 of 306 patients (5.6%). No carriers of MYH7-R719W or N696S were found. A novel TPM1-D175G mutation was found in a single patient.

      Case1: n/a

      DiseaseAssertion: HCM

      FamilyInfo: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      GenotypingMethod: Ten mutations in the beta-myosin heavy chain gene (MYH7), TPM1, and MYBPC3 were screened.

      Variant: NM_000257.4:c.3158G>A

      ClinVar: 155814

      CAID: CA013417

      gnomAD: https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      0.0006368 European - Finnish

      CAID:CA013417 ClinVarID:155814 DiseaseEntity:HCM PreviousTesting:None InheritancePattern:NoInheritanceAssertion InsufficentEvidence inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pubmed.ncbi.nlm.nih.gov/24888384/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
    6
    1. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 329

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant1: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      Variant2: NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)

      ClinVar: 43020 https://www.ncbi.nlm.nih.gov/clinvar/variation/43020/

      gnomAD: 0.01265, https://gnomad.broadinstitute.org/variant/14-23886409-G-C

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:155814 ClinVarID:43020 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 154

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      MultipleGeneVariants:

      (1) FBN1 Variant

      Variant: NM_000138.4(FBN1):c.3077T>C (p.Phe1026Ser)

      ClinVar: 199948 https://www.ncbi.nlm.nih.gov/clinvar/variation/199948/

      gnomAD: 0.006608, https://gnomad.broadinstitute.org/variant/15-48782053-A-G

      (2) JUP Variant

      Variant: NM_002230.4(JUP):c.1942G>A (p.Val648Ile)

      ClinVar: 45842 https://www.ncbi.nlm.nih.gov/clinvar/variation/45842/

      gnomAD: 0.01341, https://gnomad.broadinstitute.org/variant/17-39913771-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:155814 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    3. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 204

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:155814 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    4. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 19

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814, https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.00006010, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion ClinVarID:155814 PreviousTesting:Additional Mutation:Germline SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    5. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 353

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      MultipleGeneVariants:

      (1) EYA4 Variant

      Variant: NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)

      ClinVar: 191664 https://www.ncbi.nlm.nih.gov/clinvar/variation/191664/

      gnomAD: 0.004341, https://gnomad.broadinstitute.org/variant/6-133802609-G-A

      (2) TTN Variant

      Variant: NM_133378.4:c.21031G>T (p.Glu7011Ter)

      CAID: CA349496727 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_133378.4%3Ac.21031G%3ET

      gnomAD: Not in gnomAD

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData ClinVarID:155814 inferred_gene_hgnc:12403 inferred_gene_source:CAID Cardiomyopathy Annotation
    6. ClingenBaseline 21 Oct 2026

      Supplementary Data Table S3

      Case: 46

      DiseaseEntity: HCM

      HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

      InheritancePattern: n/a

      CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

      CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

      Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

      ClinVar: 155814, https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

      gnomAD: 0.00006010, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

      MultipleGeneVariants:

      (1) EYA4 Variant

      Variant: NM_004100.5(EYA4):c.1495G>A (p.Val499Ile)

      ClinVar: 534385, https://www.ncbi.nlm.nih.gov/clinvar/variation/534385/

      gnomAD: 0.0002548, https://gnomad.broadinstitute.org/variant/6-133834170-G-A

      (2) FKTN Variant

      Variant: NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala)

      ClinVar: 36137, https://www.ncbi.nlm.nih.gov/clinvar/variation/36137/

      gnomAD: 0.002206, https://gnomad.broadinstitute.org/variant/9-108397456-A-G

      Individual CaseInfo DiseaseEntity:HCM InheritancePattern:NoInheritanceAssertion ClinVarID:155814 MultipleGeneVariants PreviousTesting:Additional Mutation:Germline SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6437444/