ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.329G>A (p.Arg110His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003100445 SCV003484449 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2022-04-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 110 of the OXCT1 protein (p.Arg110His). This variant is present in population databases (rs750016760, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with OXCT1-related conditions. 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"). 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.

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