ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.31C>T (p.Arg11Trp)

dbSNP: rs769716748
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
Counsyl RCV000665671 SCV000789830 likely pathogenic GNE myopathy 2017-02-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784233 SCV002018492 likely pathogenic not provided 2019-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530662 SCV003441378 pathogenic GNE myopathy; Sialuria 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 42 of the GNE protein (p.Arg42Trp). This variant is present in population databases (rs769716748, gnomAD 0.003%). This missense change has been observed in individuals with distal myopathy (PMID: 14972325, 29480215, 33250842). This variant is also known as R11W. ClinVar contains an entry for this variant (Variation ID: 550820). 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 disruptive. Experimental studies have shown that this missense change affects GNE function (PMID: 16503651). This variant disrupts the p.Arg42 amino acid residue in GNE. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000665671 SCV003807685 likely pathogenic GNE myopathy 2022-09-16 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 moderated, PM2 moderated, PM3 moderated, PM5 moderated, PP3 supporting
Baylor Genetics RCV000665671 SCV004191648 likely pathogenic GNE myopathy 2024-03-12 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.