ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.706C>T (p.Arg236Ter)

gnomAD frequency: 0.00001  dbSNP: rs765110067
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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 RCV002000023 SCV002229957 pathogenic Inherited glutathione synthetase deficiency 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg236*) in the GSS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GSS are known to be pathogenic (PMID: 12638941, 15717202). This variant is present in population databases (rs765110067, gnomAD 0.003%). 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: 1452899). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005031993 SCV005661812 likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria; Glutathione synthetase deficiency with 5-oxoprolinuria 2024-05-21 criteria provided, single submitter clinical testing

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