ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.878A>G (p.His293Arg)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003337935 SCV004048375 likely pathogenic GNE myopathy criteria provided, single submitter clinical testing The missense variant p.H324R in GNE (NM_001128227.3) has been previously reported in individuals affected with GNE Myopathy (Bhattacharya s et al, 2018). The p.H324R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. .The p.H324R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The histidine residue at codon 324 of GNE is conserved in all mammalian species. The nucleotide c.971 in GNE is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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.