ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)

gnomAD frequency: 0.00002  dbSNP: rs765794816
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000560494 SCV000632651 uncertain significance GNE myopathy; Sialuria 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 8 of the GNE protein (p.Gln8Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs765794816, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Counsyl RCV000674554 SCV000799909 uncertain significance GNE myopathy 2018-05-15 criteria provided, single submitter 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.