Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525422 | SCV000642179 | likely benign | Familial focal epilepsy with variable foci | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715809 | SCV000846640 | uncertain significance | Seizures | 2018-03-13 | criteria provided, single submitter | clinical testing | The p.N88D variant (also known as c.262A>G), located in coding exon 4 of the DEPDC5 gene, results from an A to G substitution at nucleotide position 262. The asparagine at codon 88 is replaced by aspartic 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. |