ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.896dup (p.Tyr299Ter)

dbSNP: rs2134456170
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993136 SCV002231691 pathogenic Ornithine aminotransferase deficiency 2021-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr299*) 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 (ExAC no frequency). This premature translational stop signal has been observed in individuals with gyrate atrophy (PMID: 1609808, 22674428). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001993136 SCV004208944 likely pathogenic Ornithine aminotransferase deficiency 2023-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001993136 SCV005665754 likely pathogenic Ornithine aminotransferase deficiency 2024-01-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.