ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)

gnomAD frequency: 0.00009  dbSNP: rs138357804
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727190 SCV000620691 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing The R512Q variant in the GNE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R512Q variant is observed in 5/8652 (0.06%) alleles from individuals of East Asian background in the ExAC dataset. The R512Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R512Q as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000531870 SCV000632646 uncertain significance GNE myopathy; Sialuria 2022-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 512 of the GNE protein (p.Arg512Gln). This variant is present in population databases (rs138357804, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 451929). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Eurofins Ntd Llc (ga) RCV000727190 SCV000706495 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727190 SCV003815073 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274363 SCV001458434 uncertain significance GNE myopathy 2020-09-16 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.