ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)

dbSNP: rs104894530
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Metabolic Diseases, Hacettepe University RCV001089469 SCV000998573 likely pathogenic PMM2-congenital disorder of glycosylation criteria provided, single submitter clinical testing
Pediatrics, MediClubGeorgia RCV001089469 SCV001451942 pathogenic PMM2-congenital disorder of glycosylation 2020-11-01 criteria provided, single submitter clinical testing The PMM2 variant c.349G>T p.(Gly117Cys) causes an amino acid change from Gly to Cys at position 117. The substitution is in close proximity to the highly conserved acceptor splice site. This variant is absent in population databases and in clinvar is submitted as a likely pathogenic. Algorithms developed to predict the effect of missense variants showed:PolyPhen: Probablydamaging; Align-GVGD: C0; SIFT: Deleterious; MutationTaster: Disease-causing; Conservation_nt: high; Conservation_aa: high 2/2 likely splice effect;
Labcorp Genetics (formerly Invitae), Labcorp RCV001089469 SCV002949674 uncertain significance PMM2-congenital disorder of glycosylation 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 117 of the PMM2 protein (p.Gly117Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.