ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.286A>G (p.Lys96Glu)

gnomAD frequency: 0.00001  dbSNP: rs778816809
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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 RCV000688844 SCV000816469 uncertain significance Glycogen storage disease, type II 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 96 of the GAA protein (p.Lys96Glu). This variant is present in population databases (rs778816809, gnomAD 0.002%). This missense change has been observed in individual(s) with unexplained limb-girdle muscle weakness or elevated serum creatine kinase activity (PMID: 29149851). ClinVar contains an entry for this variant (Variation ID: 568474). 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 RCV001570772 SCV001795119 uncertain significance not provided 2019-04-29 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; This variant is associated with the following publications: (PMID: 29149851)
Genome-Nilou Lab RCV000688844 SCV002027208 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000688844 SCV002091902 uncertain significance Glycogen storage disease, type II 2020-02-18 no assertion criteria provided clinical testing

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