Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813985 | SCV000954372 | pathogenic | Colorectal cancer, susceptibility to, 12 | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-16 of the POLE gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in POLE are known to be pathogenic (PMID: 23230001, 25948378, 30503519). This variant has not been reported in the literature in individuals affected with POLE-related conditions. For these reasons, this variant has been classified as Pathogenic. |