Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794715 | SCV000934140 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2018-08-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant, c.1408_1422dupCGCTCCTACACGCTC, results in the insertion of 5 amino acids to the POLD1 protein (p.Arg470_Leu474dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with POLD1-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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. |