Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001894558 | SCV002129438 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2021-08-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CDH1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu630Hisfs*22) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant is not present in population databases (ExAC no frequency). |