Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003583131 | SCV004333374 | pathogenic | Epilepsy, familial adult myoclonic, 5 | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg443Profs*41) in the CNTN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTN2 are known to be pathogenic (PMID: 11178983, 23518707). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. For these reasons, this variant has been classified as Pathogenic. |