ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg)

gnomAD frequency: 0.00005  dbSNP: rs369643387
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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 RCV001899066 SCV002176250 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 457 of the OXCT1 protein (p.Thr457Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine 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 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: "Tolerated"; 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.
Revvity Omics, Revvity RCV001899066 SCV003816558 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2020-06-23 criteria provided, single submitter clinical testing
GeneDx RCV003149001 SCV003837184 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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