Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001307950 | SCV001497381 | uncertain significance | RASopathy | 2023-09-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 666414). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRAF protein function. 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 BRAF-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 30 of the BRAF protein (p.Gly30Asp). This variant is present in population databases (no rsID available, gnomAD 0.004%). |
Service de Génétique Moléculaire, |
RCV000824930 | SCV000965963 | likely benign | Noonan syndrome with multiple lentigines | no assertion criteria provided | clinical testing |