Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000687994 | SCV000815589 | uncertain significance | Arterial tortuosity syndrome | 2022-05-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 224 of the SLC2A10 protein (p.Ala224Gly). This variant is present in population databases (rs371261694, gnomAD 0.008%). This missense change has been observed in individual(s) with aortic dilation or dissection (PMID: 25944730). ClinVar contains an entry for this variant (Variation ID: 567815). 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. |
| Fulgent Genetics, |
RCV000687994 | SCV002815351 | uncertain significance | Arterial tortuosity syndrome | 2021-10-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003303114 | SCV003992304 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-06 | criteria provided, single submitter | clinical testing | The p.A224G variant (also known as c.671C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide position 671. The alanine at codon 224 is replaced by glycine, an amino acid with similar properties. This variant has been detected in the heterozygous state in an individual reported to have aortic dilation/dissection (Wooderchak-Donahue W et al. Am J Med Genet A, 2015 Aug;167A:1747-57). 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. |