Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036692 | SCV001200069 | uncertain significance | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2021-03-09 | criteria provided, single submitter | clinical testing | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNT1 cause disease. This variant has not been reported in the literature in individuals with KCNT1-related conditions. This variant is present in population databases (rs764041770, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Ser265Profs*37) in the KCNT1 gene. It is expected to result in an absent or disrupted protein product. |