ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.494A>G (p.His165Arg)

dbSNP: rs752047572
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971950 SCV002199838 uncertain significance Inherited glutathione synthetase deficiency 2023-09-03 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1430933). This variant has not been reported in the literature in individuals affected with GSS-related conditions. This variant is present in population databases (rs752047572, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 165 of the GSS protein (p.His165Arg).

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