ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.350G>A (p.Arg117His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002937868 SCV003260568 uncertain significance Glycogen storage disease type X 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 117 of the PGAM2 protein (p.Arg117His). This variant is present in population databases (rs201067955, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PGAM2-related conditions. 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.

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