ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)

dbSNP: rs773576381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295399 SCV001484319 uncertain significance Glycogen storage disease, type II 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 532 of the GAA protein (p.Gly532Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GAA-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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