ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.966del (p.Tyr323fs)

dbSNP: rs1951417940
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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 RCV001908681 SCV002164419 pathogenic Ornithine aminotransferase deficiency 2021-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This sequence change creates a premature translational stop signal (p.Tyr323Thrfs*6) 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).
Baylor Genetics RCV001908681 SCV004208958 likely pathogenic Ornithine aminotransferase deficiency 2022-09-29 criteria provided, single submitter clinical testing

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