Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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 |
RCV000000201 | SCV000081964 | probable-pathogenic | Ornithine aminotransferase deficiency | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Natera, |
RCV000000201 | SCV002095282 | pathogenic | Ornithine aminotransferase deficiency | 2021-06-01 | no assertion criteria provided | clinical testing |