Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001318267 | SCV001508964 | uncertain significance | Arterial tortuosity syndrome | 2020-02-02 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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. 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. This variant has been observed in individual(s) with thoracic aortic aneurysm or dissection (PMID: 28855619). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 385 of the SLC2A10 protein (p.Ala385Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. |