ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)

dbSNP: rs1484576607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667659 SCV000792145 uncertain significance Glycogen storage disease, type II 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667659 SCV001215884 uncertain significance Glycogen storage disease, type II 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 682 of the GAA protein (p.Gln682Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Pompe disease (PMID: 25026126). ClinVar contains an entry for this variant (Variation ID: 552409). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001756129 SCV001986140 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25026126)
Genome-Nilou Lab RCV000667659 SCV002027287 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing

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