ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)

gnomAD frequency: 0.00001  dbSNP: rs1308236739
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051356 SCV001215504 uncertain significance Glycogen storage disease type X 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PGAM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 48 of the PGAM2 protein (p.Ala48Val). ClinVar contains an entry for this variant (Variation ID: 847748). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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