ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.631C>G (p.Gln211Glu)

gnomAD frequency: 0.00034  dbSNP: rs370351723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809202 SCV000949345 uncertain significance Gluthathione synthetase deficiency 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 211 of the GSS protein (p.Gln211Glu). This variant is present in population databases (rs370351723, gnomAD 0.2%). 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: 653428). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GSS 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507987 SCV001713858 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001507987 SCV003800016 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001507987 SCV004235234 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing

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