ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.1318G>A (p.Val440Met)

gnomAD frequency: 0.00006  dbSNP: rs371147790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945503 SCV002195363 uncertain significance Inherited glutathione synthetase deficiency 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 440 of the GSS protein (p.Val440Met). This variant is present in population databases (rs371147790, gnomAD 0.02%). 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: 1415236). 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. 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 RCV003167177 SCV003876676 uncertain significance Inborn genetic diseases 2023-02-01 criteria provided, single submitter clinical testing The c.1318G>A (p.V440M) alteration is located in exon 13 (coding exon 12) of the GSS gene. This alteration results from a G to A substitution at nucleotide position 1318, causing the valine (V) at amino acid position 440 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738113 SCV004563699 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing

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