Description
The V713G variant in the GRIN2A gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The V713G variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The V713G variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is conserved acrossspecies. In silico analysis predicts this variant is probably damaging to the protein structure/function.Missense variants in nearby residues (E714K, A716T) have been reported in the Human GeneMutation Database in association with epilepsy (Stenson et al., 2014), supporting the functionalimportance of this region of the protein. The V713G variant is a strong candidate for a pathogenicvariant, however the possibility it may be a rare benign variant cannot be excluded.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
