Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004561581 | SCV000647485 | pathogenic | Familial adenomatous polyposis 1 | 2017-02-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1327 (p.Ser1327*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1,517 amino acids (>50%) of the APC protein. 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, multiple truncating variants downstream of this variant have been reported as pathogenic in individuals with FAP (PMID: 20685668, 20223039). |
Myriad Genetics, |
RCV004561581 | SCV004043735 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-09 | 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. |