ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.1078del (p.Leu360fs)

dbSNP: rs1951389692
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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 RCV001226503 SCV001398818 pathogenic Ornithine aminotransferase deficiency 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu360Serfs*2) 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 variant has not been reported in the literature in individuals affected with OAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 954106). For these reasons, this variant has been classified as Pathogenic.

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