ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)

dbSNP: rs777571608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001194633 SCV001364294 uncertain significance Glycogen storage disease, type II 2020-04-02 criteria provided, single submitter research ACMG codes: PM2, PP3
Invitae RCV001194633 SCV001401366 uncertain significance Glycogen storage disease, type II 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 514 of the GAA protein (p.Gly514Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs777571608, ExAC 0.003%). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome-Nilou Lab RCV001194633 SCV002027277 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001194633 SCV002092040 uncertain significance Glycogen storage disease, type II 2020-02-13 no assertion criteria provided clinical testing

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