Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003633508 | SCV000552729 | pathogenic | Familial adenomatous polyposis 1 | 2016-07-11 | 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, truncating variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with FAP (PMID: 17064931). This sequence change deletes 7 nucleotides and inserts 3 nucleotides in exon 16 of the APC mRNA (c.4357_4363delCCTAAAAinsAAT), causing a frameshift at codon 1453. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Pro1453Asnfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. |