Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698145 | SCV000826788 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2018-10-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in an individual affected with clinical features of SCN2A-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SCN2A gene (p.Ile1772Metfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 234 amino acids of the SCN2A protein. |