Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003588565 | SCV004275817 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 15 of the KCNQ2 gene. It does not directly change the encoded amino acid sequence of the KCNQ2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with benign familial neonatal convulsions (PMID: 16686649). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS14-6C>A, Val589X, and p.R588fsX589. ClinVar contains an entry for this variant (Variation ID: 21815). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects KCNQ2 function (PMID: 16686649). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000678110 | SCV000056019 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNE (benign familial neonatal epilepsy). In 1/11 seizures continued until 14 months of age; photosensitive myoclonic epilepsy at age 13 years. |