ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060096 SCV003440131 uncertain significance Glycogen storage disease type X 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 10 of the PGAM2 protein (p.Arg10Gln). This variant is present in population databases (rs770104295, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of glycogen storage disease (PMID: 19783439). 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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