ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.780del (p.Phe260fs)

dbSNP: rs2134456707
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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 RCV001384985 SCV001584692 pathogenic Ornithine aminotransferase deficiency 2022-02-24 criteria provided, single submitter clinical testing 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: 1072300). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe260Leufs*28) 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 RCV001384985 SCV004208955 likely pathogenic Ornithine aminotransferase deficiency 2023-01-08 criteria provided, single submitter clinical testing

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