ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.910G>A (p.Gly304Ser)

gnomAD frequency: 0.00001  dbSNP: rs140301384
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318999 SCV000338777 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239039 SCV001411884 uncertain significance Glycogen storage disease, type II 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 304 of the GAA protein (p.Gly304Ser). This variant is present in population databases (rs140301384, gnomAD 0.02%). 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: 285649). 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 RCV000318999 SCV001768618 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing 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 RCV001239039 SCV002027246 uncertain significance Glycogen storage disease, type II 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021182 SCV003745357 uncertain significance Cardiovascular phenotype 2022-11-18 criteria provided, single submitter clinical testing The c.910G>A (p.G304S) alteration is located in exon 5 (coding exon 4) of the GAA gene. This alteration results from a G to A substitution at nucleotide position 910, causing the glycine (G) at amino acid position 304 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001239039 SCV002091979 uncertain significance Glycogen storage disease, type II 2019-10-28 no assertion criteria provided clinical testing

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