ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.773-2A>T

dbSNP: rs1595848628
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826179 SCV000967718 likely pathogenic Hypertrophic cardiomyopathy 2018-09-07 criteria provided, single submitter clinical testing The c.773-2A>T variant in MYBPC3 has not been reported in any individuals with h ypertrophic cardiomyopathy (HCM) or in large population studies. This variant oc curs in the invariant region (+/- 1,2) of the splice consensus sequence and is p redicted to cause altered splicing leading to an abnormal or absent protein. Het erozygous loss of function of the MYBPC3 gene is an established disease mechanis m in autosomal dominant HCM. In summary, although additional studies are require d to fully establish its clinical significance, the c.773-2A>T variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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.