Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003529444 | SCV004291569 | uncertain significance | Noonan syndrome | 2022-12-25 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with RRAS-related conditions. This variant is present in population databases (rs747390514, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 97 of the RRAS protein (p.Tyr97His). |