Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000524044 | SCV000621660 | uncertain significance | not provided | 2017-10-16 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SLC2A10 gene. The W162R variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The W162R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and where arginine (R) is present as the wild type in multiple species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function. |
| Ambry Genetics | RCV002329243 | SCV002634106 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-07 | criteria provided, single submitter | clinical testing | The p.W162R variant (also known as c.484T>C), located in coding exon 2 of the SLC2A10 gene, results from a T to C substitution at nucleotide position 484. The tryptophan at codon 162 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |