Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822999 | SCV000963833 | pathogenic | Landau-Kleffner syndrome | 2018-10-08 | criteria provided, single submitter | clinical testing | Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with GRIN2A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro23Argfs*118) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product. |