ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu)

gnomAD frequency: 0.00001  dbSNP: rs1385458139
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820915 SCV000961652 uncertain significance Glycogen storage disease type X 2018-12-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PGAM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 125 of the PGAM2 protein (p.Pro125Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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