Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318252 | SCV000851543 | uncertain significance | Inborn genetic diseases | 2018-02-12 | criteria provided, single submitter | clinical testing | The p.P918S variant (also known as c.2752C>T), located in coding exon 12 of the GRIN2A gene, results from a C to T substitution at nucleotide position 2752. The proline at codon 918 is replaced by serine, an amino acid with 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 variant remains unclear. |
Invitae | RCV001317233 | SCV001507887 | likely benign | Landau-Kleffner syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing |