ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter)

dbSNP: rs397515920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035427 SCV000059075 pathogenic Hypertrophic cardiomyopathy 2012-05-21 criteria provided, single submitter clinical testing The Lys565X variant in MYBPC3 has been reported in one individual with HCM, was absent from 200 control chromosomes, and segregated with disease in 2 affected r elatives (Morner 2003). This nonsense variant leads to a premature termination c odon at position 565, which is predicted to lead to a truncated or absent protei n. Heterozygous loss of function of the MYBPC3 gene is an established disease me chanism in HCM. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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