Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002526446 | SCV000552540 | pathogenic | Familial adenomatous polyposis 1 | 2016-12-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with familial adenomatous polyposis (PMID: 10094547). This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 879 (p.Gln879*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1965 amino acids (~69%) of the APC protein. |
| Ambry Genetics | RCV002429543 | SCV002743285 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-19 | criteria provided, single submitter | clinical testing | The p.Q879* pathogenic mutation (also known as c.2635C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2635. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This pathogenic mutation has been reported in an Italian individual diagnosed with FAP (Giarola M et al. Hum. Mutat. 1999;13:116-23). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003335339 | SCV004044654 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |