MYBPC3 R502W - GET-Evidence

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MYBPC3 R502W

(MYBPC3 Arg502Trp)


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Short summary

Reported by ClinVar to cause hypertrophic cardiomyopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/42540/). In ClinVar this variant is reported as “pathogenic” by eight sources, including GeneDx, Invitae, the Stanford Center for Inherited Cardiovascular Disease, and the Laboratory for Molecular Medicine (Partners HealthCare).

This last source provided seven publications supporting this classification (https://www.ncbi.nlm.nih.gov/pubmed/20031618,20378854,16199542,15519027,12707239,19574547,18809796). This variant is quite rare according to ExAC data, consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/11-47364249-G-A).

Variant evidence
Computational -
Functional -
Case/Control 4
Familial 4
 
Clinical importance
Severity 4
Treatability 3
Penetrance 4
 

Impact

High clinical importance, pathogenic

(The "high clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the MYBPC3 gene
    Dilated Cardiomyopathy
    Familial Hypertrophic Cardiomyopathy
    MYBPC3-Related Dilated Cardiomyopathy
    MYBPC3-Related Familial Hypertrophic Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYBPC3

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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