Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232304 | SCV000287599 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2017-05-13 | criteria provided, single submitter | clinical testing | In summary, this is a novel missense change with uncertain impact on protein function. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a POLD1-related disease. This sequence change replaces arginine with glycine at codon 968 of the POLD1 protein (p.Arg968Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. |