ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs)

dbSNP: rs727503187
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 RCV000151093 SCV000198849 pathogenic Hypertrophic cardiomyopathy 2013-04-26 criteria provided, single submitter clinical testing The Val840fs variant in MYBPC3 has not been reported in individuals with cardiom yopathy. Data from large population studies is insufficient to assess the freque ncy of this variant. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 840 and lead to a premature terminati on codon 32 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Frameshift and other truncating variants in MYBP C3 are established as pathogenic for HCM. In summary, this variant meets our cri teria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based upon the predicted impact of the variant.

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.