ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)

dbSNP: rs121965036
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760452 SCV000890338 likely pathogenic not provided 2025-02-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 44 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 2492100, 1737786, 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000000172 SCV001394493 pathogenic Ornithine aminotransferase deficiency 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the OAT protein in which other variant(s) (p.Arg426*) have been determined to be pathogenic (PMID: 7887415, 23076989). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 149). This premature translational stop signal has been observed in individual(s) with gyrate atrophy (PMID: 1737786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg396*) in the OAT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the OAT protein.
Baylor Genetics RCV000000172 SCV004192219 pathogenic Ornithine aminotransferase deficiency 2024-02-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814786 SCV005072047 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000000172 SCV005669885 likely pathogenic Ornithine aminotransferase deficiency 2024-04-23 criteria provided, single submitter clinical testing
OMIM RCV000000172 SCV000020315 pathogenic Ornithine aminotransferase deficiency 1992-02-15 no assertion criteria provided literature only

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