Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002315219 | SCV000739661 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-05-30 | criteria provided, single submitter | clinical testing | The p.N227S variant (also known as c.680A>G), located in coding exon 2 of the SLC2A10 gene, results from an A to G substitution at nucleotide position 680. The asparagine at codon 227 is replaced by serine, an amino acid with highly similar properties. This amino acid position is 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 | RCV002531852 | SCV003279993 | uncertain significance | Arterial tortuosity syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 227 of the SLC2A10 protein (p.Asn227Ser). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. 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. 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 not expected to disrupt SLC2A10 protein function. ClinVar contains an entry for this variant (Variation ID: 520176). |