ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.516C>G (p.Ile172Met)

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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 RCV002814908 SCV003198686 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2022-09-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with OXCT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 172 of the OXCT1 protein (p.Ile172Met). 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: "Possibly 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.

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