Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204470 | SCV001375677 | uncertain significance | Familial focal epilepsy with variable foci | 2023-09-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 935803). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is present in population databases (rs778986487, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 125 of the DEPDC5 protein (p.Cys125Arg). |
Mayo Clinic Laboratories, |
RCV001508932 | SCV001715372 | uncertain significance | not provided | 2020-07-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508932 | SCV001986379 | uncertain significance | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002504236 | SCV002814856 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2022-04-29 | criteria provided, single submitter | clinical testing |