ClinVar

Description

c.-10 C>T in exon 2 of the GRIN2B gene (NM_000834.3). The c.-10 C>T sequence change in the 5' untranslated region of GRIN2B 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 variant creates a new ATG initiation codon which is out of frame with the normal ATG initiation codon. This region of the gene is normally involved in the initiation of translation, and the effect of this variant on protein translation is unclear. It is possible that the c.-10 C>T variant creates an alternative start site for protein translation that codes for an abnormal protein. However, expression and/or functional studies would be necessary to determine what effect, if any, the c.-10 C>T variant has on protein expression. Additionally, regulatory mutations associated with epilepsy have not been reported in the GRIN2B gene. Therefore, based on the currently available information, it is unclear whether c.-10 C>T is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).