ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)

gnomAD frequency: 0.00010  dbSNP: rs550065979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631092 SCV000752085 uncertain significance Glycogen storage disease, type II 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 453 of the GAA protein (p.Gly453Arg). This variant is present in population databases (rs550065979, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 526541). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GAA protein function. 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.
GeneDx RCV001756041 SCV001985970 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing 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 RCV000631092 SCV002027266 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001756041 SCV003828448 uncertain significance not provided 2023-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631092 SCV002092016 uncertain significance Glycogen storage disease, type II 2019-10-28 no assertion criteria provided clinical testing

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