ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.192_193del (p.Gly65fs)

dbSNP: rs386833600
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000000201 SCV000361347 uncertain significance Ornithine aminotransferase deficiency 2018-11-22 criteria provided, single submitter clinical testing The OAT c.192_193delAG (p.Gly65LysfsTer15) variant results in a frameshift, and is predicted to result in premature termination of the protein. The p.Gly65LysfsTer15 variant has been identified in one patient with ornithine aminotransferase deficiency in a compound heterozygous state with a missense variant (Mashima et al. 1992). OAT enzyme activity was demonstrated to be undetectable in patient fibroblasts (Mashima et al. 1992). Control data are unavailable for this variant which is reported at a frequency of 0.000039 in the European (non-Finnish) population from the Genome Aggregation Database. The evidence for this variant is limited. The p.Gly65LysfsTer15 variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for ornithine aminotransferase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000000201 SCV001588482 pathogenic Ornithine aminotransferase deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly65Lysfs*15) 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 (rs386833600, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of gyrate atrophy (PMID: 1609808). This variant is also known as 2-bp deletion (AG). ClinVar contains an entry for this variant (Variation ID: 178). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000000201 SCV004208942 pathogenic Ornithine aminotransferase deficiency 2023-05-27 criteria provided, single submitter clinical testing
OMIM RCV000000201 SCV000020344 pathogenic Ornithine aminotransferase deficiency 1992-07-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000000201 SCV000081964 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV000000201 SCV002095282 pathogenic Ornithine aminotransferase deficiency 2021-06-01 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.