Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742678 | SCV000647441 | pathogenic | Familial adenomatous polyposis 1 | 2017-04-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004) and multiple truncating variants located downstream of this variant have been determined to be pathogenic (Invitae database). This suggests that deletion of this region of the APC protein is causative of disease. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1106 (p.Gly1106*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1737 amino acids of the APC protein. |