Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040486 | SCV001204062 | uncertain significance | Neurofibromatosis, type 2 | 2019-12-26 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with glutamine at codon 20 of the NF2 protein (p.Lys20Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). 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"). 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. |