Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262058 | SCV002543747 | uncertain significance | Autoinflammatory syndrome | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003095937 | SCV003256082 | uncertain significance | Familial Mediterranean fever | 2021-05-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 80 of the MEFV protein (p.Arg80Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs766608226, ExAC 0.03%). This variant has not been reported in the literature in individuals with MEFV-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |