ClinVar

Description

p.C1070S (TGC>AGC): c.3208T>A in the GRIN2A gene (NM_000833.3). The C1070S 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 C1070S 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. However, in silico analysis predicts this variant likely does not alter the protein structure/function, and missense mutations in nearby residues have not been reported in association with GRIN2A-related disorder. Therefore, based on the currently available information, it is unclear whether C1070S is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).