Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |