ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)

dbSNP: rs372435680
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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 RCV001870944 SCV002128374 uncertain significance Glycogen storage disease type X 2021-11-23 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. This variant has not been reported in the literature in individuals affected with PGAM2-related conditions. This variant is present in population databases (rs372435680, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 123 of the PGAM2 protein (p.Pro123Arg). 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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