ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)

dbSNP: rs104894530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000008152 SCV002310410 likely pathogenic PMM2-congenital disorder of glycosylation 2021-12-07 criteria provided, single submitter clinical testing 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. 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. Experimental studies have shown that this missense change affects PMM2 function (PMID: 10602363). ClinVar contains an entry for this variant (Variation ID: 7713). This missense change has been observed in individual(s) with congenital disorder of glycosylation (PMID: 9781039). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 117 of the PMM2 protein (p.Gly117Arg).
OMIM RCV000008152 SCV000028357 pathogenic PMM2-congenital disorder of glycosylation 1998-07-01 no assertion criteria provided literature only

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