Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550145 | SCV000646547 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2017-03-27 | criteria provided, single submitter | clinical testing | In summary, this variant 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: "Benign"; 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 proline with arginine at codon 77 of the POLD1 protein (p.Pro77Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. |
Mendelics | RCV002248772 | SCV002519153 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |