Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200508 | SCV000253727 | pathogenic | Familial adenomatous polyposis 1 | 2015-09-03 | criteria provided, single submitter | clinical testing | This sequence change is a gross deletion of the genomic region encompassing exons 12-16 of the APC gene, which extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. Because this deletion affects all the way to the downstream of last exon of the APC gene, it is expected to result in an absent or disrupted protein product. Deletions encompassing exons 12-16, which in the literature are known as exons 11-15 deletions, have been reported in individuals and families affected with familial adenomatous polyposis (PMID: 20223039, 16736293, 18487285). For these reasons, this variant has been classified as Pathogenic. |