ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.394C>T (p.Arg132Cys)

gnomAD frequency: 0.00001  dbSNP: rs202195412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207775 SCV001379142 uncertain significance Inherited glutathione synthetase deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 132 of the GSS protein (p.Arg132Cys). This variant is present in population databases (rs202195412, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GSS-related conditions. ClinVar contains an entry for this variant (Variation ID: 938536). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002356891 SCV002621917 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.394C>T (p.R132C) alteration is located in exon 5 (coding exon 4) of the GSS gene. This alteration results from a C to T substitution at nucleotide position 394, causing the arginine (R) at amino acid position 132 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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