Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001304311 | SCV001493587 | uncertain significance | Noonan syndrome 9 | 2023-05-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SOS2-related conditions. This variant is present in population databases (rs755550719, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 422 of the SOS2 protein (p.Glu422Asp). ClinVar contains an entry for this variant (Variation ID: 1007166). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SOS2 protein function. |
Gene |
RCV003106188 | SCV003761729 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |