Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698572 | SCV000827244 | uncertain significance | Tuberous sclerosis 2 | 2019-04-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1251 of the TSC2 protein (p.Lys1251Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant has not been reported in the literature in individuals with TSC2-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |