2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 21 Oct 2026
      Contractile heterogeneity of individual cardiomyocytes from HCM-patients compared to donor cardiomyocytes. Single cardiomyocytes were isolated from frozen heart tissue of HCM-patients (red) with the mutation R723G (left) or A200V (right), respectively, and from donor individuals (blue) as controls. Cardiomyocytes were permeabilized, and after adjustment of phosphorylation levels [57, 61, 80, 114, 119], they were subjected to different calcium concentrations and the respective force generation was measured. Depicted are the forces of individual left ventricular cardiomyocytes at different calcium concentrations (force-pCa-relations), normalized to maximum force. Each symbol and curve represents a different individual cell. The boxes at physiological calcium concentration highlight the much larger variance in force generation among individual cardiomyocytes from the patients compared to controls. Figure reprinted from [82] and modified, with permission from Frontiers

      Variant 1: NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)

      ClinVar: 42885, https://www.ncbi.nlm.nih.gov/clinvar/variation/42885/

      gnomAD: n/a

      Variant 2: NM_000257.4:c.599C>T (p.Ala200Val)

      CAID: CA389052449, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389052449

      gnomAD: n/a

      VariantEvidence Variant ClinVarID:42885 CA389052449 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6475633/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs
    1
    1. ClingenBaseline 21 Oct 2026
      German Landrace pigs

      ExperimentalAssay: The authors used TALEN genome editing to introduce the orthologous mutation in MYH7 into pigs. Sanger sequencing verified successful knock-in. Most of the pigs using embryos with this mutation died prematurely, with the surviving cohort showing phenotypes of HCM similar to those in human patients. Whole genome sequencing was also performed to test for off-target mutations, but none were found.

      Human Variant

      Variant: NM_000257.3:c.2167C>G (p.Arg723Gly)

      ClinVar: 42885 https://www.ncbi.nlm.nih.gov/clinvar/variation/42885/

      gnomAD: Not in gnomAD

      Pig Variant

      Variant: NM_213855:c.2223C>G

      This variant is orthologous to the above mutation in humans.

      ExperimentalAssay ClinVarID:42885 HCM inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5859159/