Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470049 | SCV000563882 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2016-11-30 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 2-3 of the POLD1 gene, involving the first coding exon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the POLD1 gene. This variant has not been reported in the literature in individuals with a POLD1-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on POLD1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |