ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)

dbSNP: rs375681364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297956 SCV001486996 uncertain significance Glycogen storage disease, type II 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 704 of the GAA protein (p.Ala704Thr). 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 missense change has been observed in individual(s) with a positive newborn screening result for GAA-related disease (PMID: 36310651). ClinVar contains an entry for this variant (Variation ID: 1001630). 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.
GeneDx RCV001536909 SCV001753725 uncertain significance not provided 2020-05-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001297956 SCV002027291 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001297956 SCV002812140 uncertain significance Glycogen storage disease, type II 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001297956 SCV002092096 uncertain significance Glycogen storage disease, type II 2020-07-15 no assertion criteria provided clinical testing

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