ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.413C>T (p.Pro138Leu)

dbSNP: rs1951673489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064222 SCV001229108 uncertain significance Ornithine aminotransferase deficiency 2022-01-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 138 of the OAT protein (p.Pro138Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 858366). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
DBGen Ocular Genomics RCV001064222 SCV004101768 uncertain significance Ornithine aminotransferase deficiency 2021-01-01 criteria provided, single submitter clinical testing Class 3 ACMG Guidelines, 2015
Natera, Inc. RCV001064222 SCV002091910 uncertain significance Ornithine aminotransferase deficiency 2020-10-12 no assertion criteria provided clinical testing

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