ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)

dbSNP: rs958073558
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
Counsyl RCV000668655 SCV000793289 uncertain significance PMM2-congenital disorder of glycosylation 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000668655 SCV001214942 likely pathogenic PMM2-congenital disorder of glycosylation 2019-12-19 criteria provided, single submitter clinical testing This variant disrupts the p.Gly15 amino acid residue in PMM2. Other variant(s) that disrupt this residue have been observed in individuals with PMM2-related conditions (PMID: 12626389, 28454995, Invitae), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of PMM2-congenital disorder of glycosylation (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553249). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 15 of the PMM2 protein (p.Gly15Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000668655 SCV001435297 pathogenic PMM2-congenital disorder of glycosylation 2020-04-02 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.