ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)

dbSNP: rs1555453238
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668971 SCV000793658 uncertain significance PMM2-congenital disorder of glycosylation 2017-08-22 criteria provided, single submitter clinical testing
Mendelics RCV000668971 SCV001139936 pathogenic PMM2-congenital disorder of glycosylation 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000668971 SCV001369783 pathogenic PMM2-congenital disorder of glycosylation 2020-03-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP2,PP3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV000668971 SCV002245554 pathogenic PMM2-congenital disorder of glycosylation 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 553503). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 disrupt the consensus splice site. This variant disrupts the p.Gly214 amino acid residue in PMM2. Other variant(s) that disrupt this residue have been observed in individuals with PMM2-related conditions (PMID: 30687093), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with congenital disorder of glycosylation type 1a (PMID: 12357336, 25497157, 28807751). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 214 of the PMM2 protein (p.Gly214Ser). This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004788089 SCV005401130 likely pathogenic not provided 2024-05-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 12357336, 28807751)

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.