Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002532250 | SCV000822493 | pathogenic | Familial adenomatous polyposis 1 | 2020-04-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met330Serfs*6) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adenomatous polyposis (PMID: 20685668). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV002532250 | SCV004044914 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Department of Pathology and Laboratory Medicine, |
RCV001355984 | SCV001551026 | uncertain significance | not provided | no assertion criteria provided | clinical testing |