ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.159del (p.His53fs)

dbSNP: rs386833599
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
Counsyl RCV000000170 SCV000800458 pathogenic Ornithine aminotransferase deficiency 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000000170 SCV001585188 pathogenic Ornithine aminotransferase deficiency 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His53Glnfs*8) 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 (rs386833599, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with gyrate atrophy (PMID: 1737786, 28388263). ClinVar contains an entry for this variant (Variation ID: 147). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000170 SCV002780563 pathogenic Ornithine aminotransferase deficiency 2024-06-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000170 SCV004208963 pathogenic Ornithine aminotransferase deficiency 2024-03-24 criteria provided, single submitter clinical testing
OMIM RCV000000170 SCV000020313 pathogenic Ornithine aminotransferase deficiency 1992-02-15 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000000170 SCV000081963 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV000000170 SCV001161171 pathogenic Ornithine aminotransferase deficiency 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV000000170 SCV002086408 pathogenic Ornithine aminotransferase deficiency 2020-04-13 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.