Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700584 | SCV000829343 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-02-20 | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD50-related disease. This variant is present in population databases (rs777796968, ExAC 0.002%). This sequence change replaces isoleucine with threonine at codon 961 of the RAD50 protein (p.Ile961Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. |