ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)

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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 RCV002686238 SCV002998688 pathogenic Ornithine aminotransferase deficiency 2022-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr166*) in the OAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OAT are known to be pathogenic (PMID: 1737786, 23076989). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with gyrate atrophy (PMID: 26259030). For these reasons, this variant has been classified as Pathogenic.

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