Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000646699 | SCV000768475 | pathogenic | Familial adenomatous polyposis 1 | 2017-10-05 | criteria provided, single submitter | clinical testing | This sequence change is an out-of-frame deletion of exon 15 that results in a premature translational stop signal in the last exon of the APC gene (p.Glu582Alafs*20). While this variant may escape nonsense mediate decay, it is expected to delete approximately 80% of the APC protein. This variant has not been reported in the literature in individuals with APC-related disease. Loss-of-function variants in APC are known to be pathogenic. Several truncating variants downstream of this variant have been determined to be pathogenic (PMID: 20223039, 11247896, 1316610). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |