Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001213981 | SCV001385643 | uncertain significance | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 369 of the ABRAXAS1 protein (p.Arg369Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs755313466, ExAC 0.01%). This variant has not been reported in the literature in individuals with ABRAXAS1-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 leucine 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 | RCV004033919 | SCV002755442 | uncertain significance | not specified | 2024-10-17 | criteria provided, single submitter | clinical testing | The p.R369L variant (also known as c.1106G>T), located in coding exon 9 of the FAM175A gene, results from a G to T substitution at nucleotide position 1106. The arginine at codon 369 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |