ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.794G>A (p.Ser265Asn)

dbSNP: rs772002851
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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) RCV000594929 SCV000703218 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV000631094 SCV000752087 uncertain significance Glycogen storage disease, type II 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 265 of the GAA protein (p.Ser265Asn). This variant is present in population databases (rs772002851, gnomAD 0.02%). This missense change has been observed in individual(s) with Pompe disease (PMID: 34864681). ClinVar contains an entry for this variant (Variation ID: 498281). 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.
Suma Genomics RCV000631094 SCV001837639 uncertain significance Glycogen storage disease, type II criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000631094 SCV002027238 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631094 SCV002091963 uncertain significance Glycogen storage disease, type II 2021-08-16 no assertion criteria provided clinical testing

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