Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559027 | SCV000658061 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2020-01-24 | criteria provided, single submitter | clinical testing | The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA4 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CHRNA4-related disease. This sequence change creates a premature translational stop signal at codon 359 (p.Lys359*) of the CHRNA4 gene. It is expected to result in an absent or disrupted protein product. |