Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534657 | SCV000653019 | uncertain significance | Colorectal cancer, susceptibility to, 12 | 2016-05-20 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the POLE gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Whole gene duplications of POLE have not been reported in the literature. In summary, this is a novel duplication of the entire genomic sequence of the POLE gene. The effect of this duplication on POLE function can not be unequivocally established. Therefore, it has been classified as a Variant of Uncertain Significance. |