ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)

gnomAD frequency: 0.00001  dbSNP: rs368568190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375865 SCV000341177 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing
Invitae RCV000690653 SCV000818351 uncertain significance Glycogen storage disease, type II 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 536 of the GAA protein (p.Asn536Ser). This variant is present in population databases (rs368568190, gnomAD 0.002%). 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: 287414). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000375865 SCV001713739 uncertain significance not provided 2021-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000690653 SCV002027278 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000690653 SCV002092049 uncertain significance Glycogen storage disease, type II 2020-01-31 no assertion criteria provided clinical testing

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