ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.14G>T (p.Trp5Leu)

dbSNP: rs1196147286
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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 RCV001217289 SCV001389123 uncertain significance Inherited glutathione synthetase deficiency 2022-01-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GSS-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 946425). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 5 of the GSS protein (p.Trp5Leu).

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