Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686070 | SCV000813573 | uncertain significance | Epileptic encephalopathy | 2018-01-28 | 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 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 with FASN-related disease. This variant is present in population databases (rs780441119, ExAC 0.01%). This sequence change replaces arginine with glycine at codon 405 of the FASN protein (p.Arg405Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. |