Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534709 | SCV000634049 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2017-01-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic. This particular variant has been reported to segregate with benign familial neonatal seizures in a single family (PMID: 25982755). This sequence change affects a donor splice site in intron 13 of the KCNQ2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Gene |
RCV000678058 | SCV000041614 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy) |