Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002310972 | SCV000319706 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-12-21 | criteria provided, single submitter | clinical testing | The p.F40S variant (also known as c.119T>C), located in coding exon 2 of the SLC2A10 gene, results from a T to C substitution at nucleotide position 119. The phenylalanine at codon 40 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is not well 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. |
| Invitae | RCV000458304 | SCV000549175 | uncertain significance | Arterial tortuosity syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 40 of the SLC2A10 protein (p.Phe40Ser). This variant is present in population databases (rs372166877, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 264055). 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 expected to disrupt SLC2A10 protein function. 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. |