ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.969G>T (p.Gln323His)

gnomAD frequency: 0.00001  dbSNP: rs1266693289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530125 SCV000626657 uncertain significance Glycogen storage disease, type II 2017-05-29 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on GAA function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a GAA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 323 of the GAA protein (p.Gln323His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.

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