ClinVar Miner

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

dbSNP: rs1555453238
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Total submissions: 4
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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.
Invitae 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).

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