ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.1291A>G (p.Ile431Val)

gnomAD frequency: 0.00010  dbSNP: rs138709143
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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 RCV001368083 SCV001564461 uncertain significance Ornithine aminotransferase deficiency 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 431 of the OAT protein (p.Ile431Val). This variant is present in population databases (rs138709143, gnomAD 0.06%). 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: 1058895). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001368083 SCV002089878 uncertain significance Ornithine aminotransferase deficiency 2020-02-05 no assertion criteria provided clinical testing

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