ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.370C>G (p.Gln124Glu)

gnomAD frequency: 0.00002  dbSNP: rs1291571294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731689 SCV000859536 uncertain significance not provided 2018-02-07 criteria provided, single submitter clinical testing
Invitae RCV001045349 SCV001209191 uncertain significance Glycogen storage disease, type II 2023-09-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 595995). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 124 of the GAA protein (p.Gln124Glu).
Genome-Nilou Lab RCV001045349 SCV002027212 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001045349 SCV002091915 uncertain significance Glycogen storage disease, type II 2021-03-28 no assertion criteria provided clinical testing

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