Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461835 | SCV000564021 | pathogenic | Familial adenomatous polyposis 1 | 2016-06-10 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 9-11 of the APC gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. A gross deletion encompassing the same exons has been reported in the literature in an individual affected with familial adenomatous polyposis (PMID: 23159591). In the literature, this copy number change is reported as a deletion of exons 8-10. For these reasons, this variant has been classified as Pathogenic. |