ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.824G>A (p.Trp275Ter)

dbSNP: rs267606924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000203 SCV001388246 pathogenic Ornithine aminotransferase deficiency 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp275*) 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 present in population databases (rs267606924, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with OAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 180). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000203 SCV002810312 likely pathogenic Ornithine aminotransferase deficiency 2022-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000203 SCV004208950 likely pathogenic Ornithine aminotransferase deficiency 2023-04-06 criteria provided, single submitter clinical testing
OMIM RCV000000203 SCV000020346 pathogenic Ornithine aminotransferase deficiency 1993-01-29 no assertion criteria provided literature only

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