ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.994C>T (p.Arg332Cys)

gnomAD frequency: 0.00006  dbSNP: rs568602749
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002047204 SCV002108311 uncertain significance Inherited glutathione synthetase deficiency 2022-08-19 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 332 of the GSS protein (p.Arg332Cys). This variant is present in population databases (rs568602749, gnomAD 0.06%). 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: 1351913). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV002545709 SCV003692162 uncertain significance Inborn genetic diseases 2022-01-12 criteria provided, single submitter clinical testing The c.994C>T (p.R332C) alteration is located in exon 10 (coding exon 9) of the GSS gene. This alteration results from a C to T substitution at nucleotide position 994, causing the arginine (R) at amino acid position 332 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481139 SCV004225485 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing PP3, PM1
Revvity Omics, Revvity RCV003481139 SCV004235225 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003481139 SCV004563294 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing

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