Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003538502 | SCV000768235 | pathogenic | Familial adenomatous polyposis 1 | 2017-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Different truncations (p.Ser1973Valfs*71, p.Asn1979fs*64, and p.Glu1985Leufs*58) that lie downstream of this variant has been determined to be pathogenic (PMID: 20223039, 20434453, 9824584, 26681312). This suggests that deletion of this region of the APC protein is causative of disease. This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the APC gene (p.Phe1954Leufs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 890 amino acids (~31%) of the APC protein. |