ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)

dbSNP: rs886043979
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282876 SCV000342867 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000282876 SCV001144074 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521996 SCV003440924 likely pathogenic GNE myopathy; Sialuria 2022-01-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GNE protein function. ClinVar contains an entry for this variant (Variation ID: 288683). This variant is also known as c.1721T>C (Ile557Thr). This missense change has been observed in individuals with distal myopathy (PMID: 12497639, 15136692). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 588 of the GNE protein (p.Ile588Thr).
Natera, Inc. RCV001828255 SCV002075634 uncertain significance GNE myopathy 2021-01-27 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.