Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521329 | SCV000620070 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SLC2A10 gene. The A152V 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; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the A152V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and in silico analysis suggests that this variant likely does not alter the protein structure/function. |
Ambry Genetics | RCV002314915 | SCV000739660 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-25 | criteria provided, single submitter | clinical testing | The p.A152V variant (also known as c.455C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 455. The alanine at codon 152 is replaced by valine, an amino acid with similar 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. |
Labcorp Genetics |
RCV001312628 | SCV001503088 | uncertain significance | Arterial tortuosity syndrome | 2021-11-04 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs775987124, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 152 of the SLC2A10 protein (p.Ala152Val). 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: 451377). |