Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230549 | SCV000552638 | pathogenic | Familial adenomatous polyposis 1 | 2016-08-30 | 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). In addition, numerous pathogenic loss-of-function variants have been reported downstream of this variant (PMID: 20223039). This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2133delT), causing a frameshift at codon 712. This creates a premature translational stop signal in the last exon of the APC mRNA (p.His712Ilefs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein by removing ~2125 amino acid residues (~75%) from the full length protein. |