Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001210635 | SCV001382131 | uncertain significance | Familial focal epilepsy with variable foci | 2022-04-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 940948). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 568 of the DEPDC5 protein (p.Asp568Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). |
| Ambry Genetics | RCV003284050 | SCV003986004 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.1704C>G (p.D568E) alteration is located in exon 22 (coding exon 21) of the DEPDC5 gene. This alteration results from a C to G substitution at nucleotide position 1704, causing the aspartic acid (D) at amino acid position 568 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |