Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000801415 | SCV000941189 | uncertain significance | Arterial tortuosity syndrome | 2020-03-04 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SLC2A10-related conditions. This variant is present in population databases (rs772308135, ExAC 0.02%). This sequence change replaces valine with methionine at codon 145 of the SLC2A10 protein (p.Val145Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. |
| Ambry Genetics | RCV002332629 | SCV002632171 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-05-12 | criteria provided, single submitter | clinical testing | The p.V145M variant (also known as c.433G>A), located in coding exon 2 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 433. The valine at codon 145 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine is the reference amino acid in other 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. |
| Gene |
RCV004789199 | SCV005401487 | uncertain significance | not provided | 2024-05-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |