ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1118C>G (p.Ala373Gly)

dbSNP: rs730880924
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
GeneDx RCV000523995 SCV000616798 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing The A373G variant of uncertain significance in the MYH7 gene has not been published as pathogenic or been reported as benign to our knowledge. A373G is not observed in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the A373G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. And although missense variants in nearby residues (R369Q, E374V, G377R, G377S) have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), the pathogenicity of each of these variants has not been definitively determined.

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.