ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.626T>C (p.Ile209Thr)

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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 RCV002800272 SCV003028437 uncertain significance Inherited glutathione synthetase deficiency 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 209 of the GSS protein (p.Ile209Thr). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004632070 SCV005125545 uncertain significance Inborn genetic diseases 2024-03-30 criteria provided, single submitter clinical testing The p.I209T variant (also known as c.626T>C), located in coding exon 6 of the GSS gene, results from a T to C substitution at nucleotide position 626. The isoleucine at codon 209 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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