Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217581 | SCV001389427 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-04-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 946673). This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. This variant is present in population databases (rs371694148, gnomAD 0.003%). This sequence change affects codon 1009 of the KCNT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNT1 protein. It affects a nucleotide within the consensus splice site. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |