ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)

gnomAD frequency: 0.00001  dbSNP: rs528010457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279299 SCV002788573 uncertain significance Glycogen storage disease, type II 2021-12-15 criteria provided, single submitter clinical testing
Invitae RCV001279299 SCV003446673 uncertain significance Glycogen storage disease, type II 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 591 of the GAA protein (p.Arg591Gln). This variant is present in population databases (rs528010457, 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: 991139). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Natera, Inc. RCV001279299 SCV001466387 uncertain significance Glycogen storage disease, type II 2020-08-14 no assertion criteria provided clinical testing

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