Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000541778 | SCV000647156 | pathogenic | Familial adenomatous polyposis 1 | 2017-12-01 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 16 of the APC gene. The 5' boundary is likely confined to intron 15. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by eliminating 1,911 amino acids (~65%) from the protein. Loss-of-function variants in APC are known to be pathogenic. Similar deletions of exon 16 have been reported in the literature in individuals affected with adenomatous polyposis (PMID: 17568392). In addition, multiple truncations (PMID: 1338764, 20685668, 10083733, 1316610, Invitae database) within this exon have been reported to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |