Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032364 | SCV001195671 | pathogenic | Familial adenomatous polyposis 1 | 2019-02-20 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 9-11 of the APC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 9-11 has been observed in an individual affected with familial adenomatous polyposis (PMID: 23159591). A deletion of exons 9-11 is also known as a deletion of exons 8-10 in the literature. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic. |