Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187877 | SCV000241477 | pathogenic | not provided | 2017-06-22 | criteria provided, single submitter | clinical testing | The Trp269Stop nonsense variant in the KCNQ2 gene has been reported previously in association with benign familial neonatal seizures (Singh et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Invitae | RCV001050636 | SCV001214755 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp269*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). This variant is present in population databases (rs118192208, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of benign familial neonatal convulsions (PMID: 14534157). ClinVar contains an entry for this variant (Variation ID: 21802). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001267035 | SCV001445216 | pathogenic | Inborn genetic diseases | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000678095 | SCV000041658 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy). 1/7 late onset; 2/7 FS (febrile seizures)+GS (generalized seizures) in adulthood. |