ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)

gnomAD frequency: 0.00001  dbSNP: rs779338215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359261 SCV001555124 uncertain significance Glycogen storage disease, type II 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 693 of the GAA protein (p.Gln693Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs779338215, ExAC 0.02%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001359261 SCV002092094 uncertain significance Glycogen storage disease, type II 2020-09-22 no assertion criteria provided clinical testing

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