ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)

gnomAD frequency: 0.00003  dbSNP: rs121965057
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000199 SCV000834568 pathogenic Ornithine aminotransferase deficiency 2024-07-08 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 present in population databases (rs121965057, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with gyrate atrophy (PMID: 1609808, 22674428). ClinVar contains an entry for this variant (Variation ID: 176). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074426 SCV001240009 likely pathogenic Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237409 SCV002009281 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000199 SCV004192213 pathogenic Ornithine aminotransferase deficiency 2024-01-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001074426 SCV005072003 pathogenic Retinal dystrophy 2009-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000000199 SCV005669974 pathogenic Ornithine aminotransferase deficiency 2024-06-23 criteria provided, single submitter clinical testing
OMIM RCV000000199 SCV000020342 pathogenic Ornithine aminotransferase deficiency 1992-07-01 no assertion criteria provided literature only
Natera, Inc. RCV000000199 SCV001459693 pathogenic Ornithine aminotransferase deficiency 2020-09-16 no assertion criteria provided 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.