Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000535350 | SCV000647147 | pathogenic | Familial adenomatous polyposis 1 | 2019-11-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing promoter 1B, promoter 1A and exons 2-6 of the APC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the APC gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, exon-level deletions and loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001853709 | SCV002246518 | pathogenic | Familial adenomatous polyposis 1 | 2021-09-09 | criteria provided, single submitter | clinical testing |