Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001916121 | SCV002178163 | uncertain significance | Noonan syndrome | 2021-07-31 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RRAS-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. 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 disruptive. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 128 of the RRAS protein (p.Arg128Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |