ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.[64_66delGTGinsCTC;65T>G]

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, Partners HealthCare Personalized Medicine RCV000221703 SCV000272178 uncertain significance not specified 2015-07-08 criteria provided, single submitter clinical testing The p.Val22Arg variant in MYOM1 has not been previously reported in individuals with cardiomyopathy. This variant is caused by two independent events (on the sa me allele), resulting in an overall amino acid change at position 22 from valine to arginine. The p.Val22Arg variant has been identified in 14/114132 pan ethnic chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu, pers. comm.). Computational prediction tools and conservation analysis s uggest that the p.Val22Arg variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. In summary, the clini cal significance of the p.Val22Arg variant is uncertain.

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.