ClinVar Miner

Submissions for variant NM_001927.4(DES):c.199G>A (p.Gly67Arg)

gnomAD frequency: 0.00002  dbSNP: rs753419517
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002003604 SCV002268649 uncertain significance Desmin-related myofibrillar myopathy 2020-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 67 of the DES protein (p.Gly67Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs753419517, ExAC 0.02%). This variant has not been reported in the literature in individuals with DES-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.