Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002533305 | SCV000768288 | pathogenic | Familial adenomatous polyposis 1 | 2017-11-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asn1979Thrfs*64) that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 20434453, 26681312). 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 APC gene (p.Ser1202Aspfs*62). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1642 amino acids of the APC protein. |