Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638203 | SCV000759689 | pathogenic | Severe myoclonic epilepsy in infancy | 2017-11-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SNX27 are known to be pathogenic (PMID: 25894286). This variant has not been reported in the literature in individuals with SNX27-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr406*) in the SNX27 gene. It is expected to result in an absent or disrupted protein product. |