Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636285 | SCV000757724 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys283Serfs*36) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KCNQ2-related disease. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). For these reasons, this variant has been classified as Pathogenic. |