ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.854G>A (p.Arg285Gln)

gnomAD frequency: 0.00004  dbSNP: rs766119402
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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 RCV001881049 SCV002144711 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2020-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 285 of the OXCT1 protein (p.Arg285Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with OXCT1-related conditions. This variant is present in population databases (rs766119402, ExAC 0.009%).

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