Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187647 | SCV000241244 | uncertain significance | not specified | 2014-06-25 | criteria provided, single submitter | clinical testing | p.Arg899Trp (CGG>TGG): c.2695 C>T in exon 14 of the GRIN2A gene (NM_000833.3). The R899W variant has not been published as a mutation, nor has it been reported as a benign polymorphism 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. The R899W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across mammals, and a missense mutation in a nearby residue (I904F) has been reported in association with a GRIN2A-related disorder. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in EPILEPSY panel(s). |
Invitae | RCV000456951 | SCV000552386 | benign | Landau-Kleffner syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |