ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) (rs397515910)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000035413 SCV000207040 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-03-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844683 SCV000059061 pathogenic Hypertrophic cardiomyopathy 2015-08-27 criteria provided, single submitter clinical testing The p.Tyr525X variant in MYBPC3 has been reported in one individual with HCM (Bo rtot 2011) and has been identified by our laboratory in one Caucasian individual with HCM. It has not been identified in large population studies. This variant leads to a premature termination codon at position 525, which is predicted to l ead to a truncated or absent protein. Heterozygous loss of function of the MYBPC 3 gene is an established disease mechanism in individuals with HCM. In summary, the p.Tyr525X variant meets our criteria to be classified as pathogenic for HCM in an autosomal dominant manner based upon the predicted impact to the protein.

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