ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.49G>A (p.Gly17Arg)

gnomAD frequency: 0.00001  dbSNP: rs760716065
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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 RCV000631198 SCV000752211 uncertain significance Ornithine aminotransferase deficiency 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 17 of the OAT protein (p.Gly17Arg). This variant is present in population databases (rs760716065, gnomAD 0.0009%). 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: 526625). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV000631198 SCV002086930 uncertain significance Ornithine aminotransferase deficiency 2020-11-23 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817832 SCV005073226 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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