ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.466T>C (p.Tyr156His) (rs794727505)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177229 SCV000229070 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000667198 SCV000791616 uncertain significance GNE myopathy 2017-05-19 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852136 SCV000899760 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
Invitae RCV001296886 SCV001485863 uncertain significance GNE myopathy; Sialuria 2020-09-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 187 of the GNE protein (p.Tyr187His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of myopathy (PMID: 24796702, 28320138; Invitae). ClinVar contains an entry for this variant (Variation ID: 196410). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.