Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070478 | SCV001235725 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate F | 2021-08-31 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GNB4-related conditions. This variant is present in population databases (rs755914601, ExAC 0.006%). This sequence change replaces arginine with glutamine at codon 46 of the GNB4 protein (p.Arg46Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. |