ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.460C>T (p.Arg154Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066985 SCV003454433 uncertain significance Ornithine aminotransferase deficiency 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 154 of the OAT protein (p.Arg154Cys). This variant is present in population databases (rs1804030, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with OAT-related conditions. 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.
GeneDx RCV005255741 SCV005908482 uncertain significance not provided 2024-10-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 39053126, 1737786)

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