Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001337881 | SCV001531501 | uncertain significance | Multiple congenital exostosis | 2021-10-03 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 not been reported in the literature in individuals affected with EXT1-related conditions. This variant is present in population databases (rs187891947, ExAC 0.01%). This sequence change replaces arginine with leucine at codon 63 of the EXT1 protein (p.Arg63Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. |