Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031504 | SCV001194810 | pathogenic | Landau-Kleffner syndrome | 2022-08-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6-12 of the GRIN2A gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. For these reasons, this variant has been classified as Pathogenic. |