ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1403G>A (p.Arg468His)

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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 RCV003619279 SCV004471891 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2023-01-24 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg468 amino acid residue in OXCT1. Other variant(s) that disrupt this residue have been observed in individuals with OXCT1-related conditions (PMID: 21296660, 28488182, 33596448), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OXCT1 protein function. This missense change has been observed in individual(s) with succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency (PMID: 33596448; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 468 of the OXCT1 protein (p.Arg468His).

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