Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001034670 | SCV000764178 | uncertain significance | Familial focal epilepsy with variable foci | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 859 of the DEPDC5 protein (p.Thr859Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200744555, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 534801). 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. |
| Fulgent Genetics, |
RCV000642493 | SCV000895415 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| New York Genome Center | RCV001254994 | SCV001431082 | uncertain significance | not provided | 2020-01-10 | no assertion criteria provided | clinical testing |