ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)

gnomAD frequency: 0.00001  dbSNP: rs104894034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272130 SCV000334153 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Invitae RCV000000448 SCV003439536 uncertain significance Glycogen storage disease type X 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 90 of the PGAM2 protein (p.Arg90Trp). This variant is present in population databases (rs104894034, gnomAD 0.005%). This missense change has been observed in individual(s) with phosphoglycerate mutase deficiency (PMID: 8447317). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 420). 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 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.
OMIM RCV000000448 SCV000020597 pathogenic Glycogen storage disease type X 1993-03-01 no assertion criteria provided literature only

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