ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly) (rs201618512)

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 RCV000223598 SCV000272167 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing The p.Arg795Gly variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/65584 European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP r s201618512). Computational prediction tools and conservation analysis suggest th at the p.Arg795Gly variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. This variant is located in the l ast three bases of the exon, which is part of the 3' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significan ce of the p.Arg795Gly 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.