Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318321 | SCV000851699 | uncertain significance | Inborn genetic diseases | 2017-05-24 | criteria provided, single submitter | clinical testing | The p.V417F variant (also known as c.1249G>T), located in coding exon 4 of the GRIN2A gene, results from a G to T substitution at nucleotide position 1249. The valine at codon 417 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |