Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001983688 | SCV002280253 | uncertain significance | Arterial tortuosity syndrome | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 485 of the SLC2A10 protein (p.Thr485Ala). This variant is present in population databases (rs138245283, gnomAD 0.05%). 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: 1490334). 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. 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 | RCV004671597 | SCV005164635 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-04-09 | criteria provided, single submitter | clinical testing | The c.1453A>G (p.T485A) alteration is located in exon 4 (coding exon 4) of the SLC2A10 gene. This alteration results from a A to G substitution at nucleotide position 1453, causing the threonine (T) at amino acid position 485 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |