Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052280 | SCV001216482 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2019-02-27 | 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. This variant has not been reported in the literature in individuals with POLD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 4 of the POLD1 protein (p.Lys4Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. |