Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000487147 | SCV000570653 | likely pathogenic | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | A novel c.2346_2356+8del19 variant that is likely pathogenic has been identified in the GRIN2A gene. The c.2346_2356+8del19 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant results in the deletion of 19 nucleotides at the exon 12/intron 12 boundary including the splice acceptor site and is predicted to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
| Invitae | RCV000688647 | SCV000816269 | pathogenic | Landau-Kleffner syndrome | 2017-11-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with GRIN2A-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). This variant is a gross deletion of the genomic region encompassing part of exon 12 of the GRIN2A gene, including the exon 12-intron 12 boundary (c.2346_2356+8del). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. |