ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.1252C>T (p.Arg418Ter)

dbSNP: rs1486049191
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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 RCV003509035 SCV004298055 pathogenic Inherited glutathione synthetase deficiency 2023-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg418*) 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 (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with glutathione synthetase deficiency (PMID: 25851806). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005030120 SCV005661804 likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria; Glutathione synthetase deficiency with 5-oxoprolinuria 2024-06-07 criteria provided, single submitter clinical testing

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