ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.643G>A (p.Glu215Lys)

gnomAD frequency: 0.00004  dbSNP: rs201286896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799069 SCV000938716 uncertain significance Glycogen storage disease, type II 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 215 of the GAA protein (p.Glu215Lys). This variant is present in population databases (rs201286896, 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: 645053). 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 not expected to disrupt GAA 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.
GeneDx RCV001759517 SCV001996497 uncertain significance not provided 2019-10-02 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000799069 SCV002027230 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001759517 SCV003834097 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000799069 SCV001453412 uncertain significance Glycogen storage disease, type II 2020-01-17 no assertion criteria provided clinical testing

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