Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303506 | SCV001492754 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-09-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant, c.2520_2522del, results in the deletion of 1 amino acid(s) of the KCNT1 protein (p.Asn840del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. |