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    A Dutch <Emphasis Type="Italic">MYH7</Emphasis> founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
    6
    1. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case C: proband, Male

      DiseaseAssertion: Dilated Cardiomyopathy

      CasePresentingHPOs: HP:0001644 (dilated cardiomyopathy)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, partial testing (MYH7, CSRP3, DES, LMNA, MYBPC3, TNNT2, TNNI3)

      CaseGenotypingMethod: genomic DNA isolated from peripheral blood, initially analyzed via Sanger Sequencing then by next-generation sequencing using targeted gene panels, variant pathogenicity assed using in silico prediction tools, Haplotype analysis was performed using 16 microsatellite markers around MYH7 (DNA from the 14 probands was analysed, and DNA samples of 6 family members carrying the mutation were used to verify the phase and reconstruct the haplotype Supplementary Data: Table 1)

      Variant: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      Individual CaseInfo DCM PartialPreviousTesting ClinVarID:66082 FamilyInfo NoInheritanceAssertion SupplementalData inferred_gene_hgnc:1101 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case E: proband, male

      DiseaseAssertion: Dilated Cardiomyopathy

      CasePresentingHPOs: HP:0001644 (dilated cardiomyopathy)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplemental table 2

      CaseGenotypingMethod: genomic DNA isolated from peripheral blood, initially analyzed via Sanger Sequencing then by next-generation sequencing using targeted gene panels, variant pathogenicity assed using in silico prediction tools, Haplotype analysis was performed using 16 microsatellite markers around MYH7 (DNA from the 14 probands was analysed, and DNA samples of 6 family members carrying the mutation were used to verify the phase and reconstruct the haplotype Supplementary Data: Table 1)

      Variant: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      MultipleGeneVariants:

      (1) PRDM16 Variant:

      Variant: NM_022114.3(PRDM16):c.2666C>T (p.Pro889Leu)

      ClinVar: 487607, https://www.ncbi.nlm.nih.gov/clinvar/variation/487607/

      gnomAD: 0.0001771, https://gnomad.broadinstitute.org/variant/1-3331186-C-T

      Individual CaseInfo DCM FullPreviousTesting AdditionalPreviousTesting ClinVarID:66082 MultipleGeneVariants FamilyInfo NoInheritanceAssertion SupplementalData inferred_gene_hgnc:1101 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    3. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case G: proband, Male

      DiseaseAssertion: left ventricular noncompaction

      CasePresentingHPOs: HP:0030682 (left ventricular noncompaction)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, partial testing (MYH7)

      CaseGenotypingMethod: genomic DNA isolated from peripheral blood, initially analyzed via Sanger Sequencing then by next-generation sequencing using targeted gene panels, variant pathogenicity assed using in silico prediction tools, Haplotype analysis was performed using 16 microsatellite markers around MYH7 (DNA from the 14 probands was analysed, and DNA samples of 6 family members carrying the mutation were used to verify the phase and reconstruct the haplotype Supplementary Data: Table 1)

      Variant: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      Individual CaseInfo LVNC PartialPreviousTesting ClinVarID:66082 FamilyInfo NoInheritanceAssertion SupplementalData inferred_gene_hgnc:1101 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    4. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case O:

      DiseaseAssertion: left ventricular noncompaction

      CasePresentingHPOs: HP:0030682 (left ventricular noncompaction)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplemental table 2

      CaseGenotypingMethod: genomic DNA isolated from peripheral blood, initially analyzed via Sanger Sequencing then by next-generation sequencing using targeted gene panels, variant pathogenicity assed using in silico prediction tools, Haplotype analysis was performed using 16 microsatellite markers around MYH7 (DNA from the 14 probands was analysed, and DNA samples of 6 family members carrying the mutation were used to verify the phase and reconstruct the haplotype Supplementary Data: Table 1)

      Variant: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      MultipleGeneVariants:

      (1) BAG3 Variant:

      Variant: NM_004281.3:c.1090G>A

      CAID: CA214224881, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA214224881

      gnomAD: n/a

      Individual CaseInfo LVNC FullPreviousTesting AdditionalPreviousTesting ClinVarID:66082 MultipleGeneVariants NoInheritanceAssertion SupplementalData inferred_gene_hgnc:939 inferred_gene_source:CAID Cardiomyopathy Annotation
    5. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case 1:

      DiseaseAssertion: Dilated Cardiomyopathy

      CasePresentingHPOs: HP:0001644 (dilated cardiomyopathy)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplemental table 2

      CaseGenotypingMethod: WES, Cytoscan HD SNP array (performed on proband, 3 additional carriers, and parents)

      Variant 1 - maternal: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      Variant 2 - paternal: NM_000257.3:c.328G>A

      CAID: CA036654, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA036654

      gnomAD: 0.00001591, https://gnomad.broadinstitute.org/variant/14-23902310-C-T

      MultipleGeneVariants:

      (1) FHL1 Variant:

      Variant (maternal): NM_001159702.2:c.968C>T

      CAID: CA10525127, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10525127

      gnomAD: 0.000005449, https://gnomad.broadinstitute.org/variant/X-135292109-C-T

      (2) SYNE1 Variant:

      Variant (maternal): NM_033071.3(SYNE1):c.18514G>A (p.Glu6172Lys)

      ClinVar: 199251, https://www.ncbi.nlm.nih.gov/clinvar/variation/199251/

      gnomAD: 0.00003536, https://gnomad.broadinstitute.org/variant/6-152589279-C-T

      Individual DCM FullPreviousTesting AdditionalPreviousTesting CA036654 MultipleGeneVariants CaseInfo ClinVarID:66082 NoInheritanceAssertion SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    6. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table 2

      Case I: proband, Male

      DiseaseAssertion: Dilated Cardiomyopathy

      CasePresentingHPOs: HP:0001644 (dilated cardiomyopathy)

      CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplemental table 2

      CaseGenotypingMethod: genomic DNA isolated from peripheral blood, initially analyzed via Sanger Sequencing then by next-generation sequencing using targeted gene panels, variant pathogenicity assed using in silico prediction tools, Haplotype analysis was performed using 16 microsatellite markers around MYH7 (DNA from the 14 probands was analysed, and DNA samples of 6 family members carrying the mutation were used to verify the phase and reconstruct the haplotype Supplementary Data: Table 1)

      Variant: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

      ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

      gnomAD: n/a

      Individual CaseInfo DCM FullPreviousTesting AdditionalPreviousTesting ClinVarID:66082 FamilyInfo NoInheritanceAssertion SupplementalData inferred_gene_hgnc:1101 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    link.springer.com/article/10.1007/s12471-017-1037-5