Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687471 | SCV000815036 | uncertain significance | Benign neonatal seizures | 2018-08-11 | 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 KCNQ3 cause disease. This variant has not been reported in the literature in individuals with KCNQ3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the KCNQ3 gene (p.Ala714Cysfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 159 amino acids of the KCNQ3 protein. |