ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.638A>C (p.Lys213Thr)

dbSNP: rs1430307547
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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 RCV001370668 SCV001567194 uncertain significance Inherited glutathione synthetase deficiency 2020-09-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 213 of the GSS protein (p.Lys213Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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