Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000472866 | SCV000563991 | pathogenic | Lynch syndrome | 2016-10-12 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the EPCAM gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in EPCAM are known to be pathogenic. Deletion of the entire EPCAM gene has been reported in an individual affected with a Lynch syndrome-associated cancer and/or colorectal polyps (PMID: 25980754), as well as in an affected individual with autosomal recessive congenital tufting enteropathy (PMID: 24142340). In addition, deletions of EPCAM extending to the adjacent MSH2 gene have been reported in individuals with Lynch syndrome (PMID: 16086322, 22658618), and deletions involving the 3' end of the EPCAM gene are known to cause Lynch syndrome through the mechanism of transcriptional read-through resulting in silencing of the adjacent MSH2 gene (PMID: 21145788). For these reasons, this variant has been classified as Pathogenic. |