Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001038977 | SCV001202482 | uncertain significance | Familial focal epilepsy with variable foci | 2023-11-03 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1433 of the DEPDC5 protein (p.Asp1433Glu). This variant is present in population databases (rs753759814, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 837601). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002327262 | SCV002626705 | uncertain significance | Inborn genetic diseases | 2017-07-27 | criteria provided, single submitter | clinical testing | The p.D1433E variant (also known as c.4299C>A), located in coding exon 39 of the DEPDC5 gene, results from a C to A substitution at nucleotide position 4299. The aspartic acid at codon 1433 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. |