ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.574G>A (p.Glu192Lys)

gnomAD frequency: 0.00001  dbSNP: rs1407372901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360975 SCV001556931 uncertain significance Glycogen storage disease, type II 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 192 of the GAA protein (p.Glu192Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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 RCV001773716 SCV002001776 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing Not observed[at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001360975 SCV002027223 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001360975 SCV002091937 uncertain significance Glycogen storage disease, type II 2020-12-01 no assertion criteria provided clinical testing

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