ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.913G>A (p.Gly305Arg)

gnomAD frequency: 0.00011  dbSNP: rs200154987
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360148 SCV000342539 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806320 SCV000946310 uncertain significance Glycogen storage disease, type II 2025-01-13 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 305 of the GAA protein (p.Gly305Arg). This variant is present in population databases (rs200154987, gnomAD 0.1%). This missense change has been observed in individual(s) with unexplained limb-girdle muscle weakness (PMID: 29149851; internal data). ClinVar contains an entry for this variant (Variation ID: 288431). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt GAA protein function with a positive predictive value of 95%. 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852729 SCV000995444 likely benign Cardiomyopathy 2017-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000360148 SCV001777317 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing Reported in one patient, from a cohort of patients with limb-girdle weakness or elevated serum creatine kinase activity, in whom a second GAA variant was not identified (PMID: 29149851); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29149851)
Genome-Nilou Lab RCV000806320 SCV001810507 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000360148 SCV005408534 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing PP3
Natera, Inc. RCV000806320 SCV001453599 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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