Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187659 | SCV000241256 | uncertain significance | not provided | 2014-11-22 | criteria provided, single submitter | clinical testing | p.G1122D (GGT>GAT): c.3365G>A in the GRIN2A gene (NM_000833.3). The G1122D 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 G1122D 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. However, this substitution occurs at a position that is not conserved across species. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the G1122D variant is damaging to the protein structure/function. The variant is found in INFANT-EPI panel(s). |
Institute of Human Genetics, |
RCV001262668 | SCV001440617 | likely benign | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing |