ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2122C>T (p.His708Tyr)

gnomAD frequency: 0.00010  dbSNP: rs149916476
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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) RCV000276602 SCV000334202 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000799633 SCV000939305 uncertain significance Glycogen storage disease, type II 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 708 of the GAA protein (p.His708Tyr). This variant is present in population databases (rs149916476, gnomAD 0.03%). 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: 282642). 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 not expected to disrupt GAA protein function with a negative 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.
Genome-Nilou Lab RCV000799633 SCV002027293 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000799633 SCV002092098 uncertain significance Glycogen storage disease, type II 2020-01-23 no assertion criteria provided clinical testing

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