ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.710G>A (p.Arg237Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002629574 SCV003521806 uncertain significance Inherited glutathione synthetase deficiency 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 237 of the GSS protein (p.Arg237Gln). This variant is present in population databases (rs758823167, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GSS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003134677 SCV003810600 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004072076 SCV005032679 uncertain significance Inborn genetic diseases 2023-11-10 criteria provided, single submitter clinical testing The p.R237Q variant (also known as c.710G>A), located in coding exon 7 of the GSS gene, results from a G to A substitution at nucleotide position 710. The arginine at codon 237 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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