ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)

dbSNP: rs1283810246
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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) RCV000595679 SCV000704405 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV001247458 SCV001420881 uncertain significance Glycogen storage disease, type II 2022-03-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 425 of the GAA protein (p.Pro425Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 499089). 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 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.
Genome-Nilou Lab RCV001247458 SCV002027260 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247458 SCV002092005 uncertain significance Glycogen storage disease, type II 2020-11-30 no assertion criteria provided clinical testing

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