ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.823T>A (p.Trp275Arg)

gnomAD frequency: 0.00001  dbSNP: rs947658691
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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 RCV001363702 SCV001559826 uncertain significance Ornithine aminotransferase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 275 of the OAT protein (p.Trp275Arg). The tryptophan residue is weakly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). 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 tolerated. 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.
Natera, Inc. RCV001363702 SCV002092487 uncertain significance Ornithine aminotransferase deficiency 2021-02-01 no assertion criteria provided clinical testing

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