Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318317 | SCV000851689 | uncertain significance | Inborn genetic diseases | 2017-05-23 | criteria provided, single submitter | clinical testing | The p.D1303E variant (also known as c.3909C>G), located in coding exon 12 of the GRIN2A gene, results from a C to G substitution at nucleotide position 3909. The aspartic acid at codon 1303 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |