Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001212308 | SCV001383888 | uncertain significance | Succinyl-CoA acetoacetate transferase deficiency | 2019-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 394 of the OXCT1 protein (p.Val394Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs772982372, ExAC 0.02%). This variant has not been reported in the literature in individuals with OXCT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Ambry Genetics | RCV004033851 | SCV004999621 | uncertain significance | Inborn genetic diseases | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.1180G>A (p.V394I) alteration is located in exon 13 (coding exon 13) of the OXCT1 gene. This alteration results from a G to A substitution at nucleotide position 1180, causing the valine (V) at amino acid position 394 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |