ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) (rs397516035)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035608 SCV000059259 pathogenic Hypertrophic cardiomyopathy 2011-09-28 criteria provided, single submitter clinical testing The Lys1232X variant (MYBPC3) has been identified by our laboratory in 1 out o f >2,000 Caucasian probands tested. This variant leads to a premature stop at co don 1232, which is predicted to lead to a truncated or absent protein and theref ore to a heterozygous loss of function. Loss of function of the MYBPC3 gene is an established mechanism of disease in HCM, which is consistent with this indivi dual's clinical features. In summary, the Lys1232X variant is highly likely to b e pathogenic.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845508 SCV000987610 likely pathogenic Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.