ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1753A>G (p.Ile585Val)

dbSNP: rs1085307667
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490199 SCV000576986 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DMD gene. The I585V variant has not been published as pathogenic or been reported as benign to our knowledge. I585V is not observed in large population cohorts (Lek et al., 2016). Nevertheless, the I585V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Natera, Inc. RCV001834586 SCV002092240 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-08-19 no assertion criteria provided clinical testing

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.