Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201359 | SCV000821459 | uncertain significance | Familial focal epilepsy with variable foci | 2019-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with arginine at codon 1073 of the DEPDC5 protein (p.Ser1073Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs754608531, ExAC 0.002%). This variant has been observed in an individual affected with familial focal epilepsy with variable foci, however this variant was not observed in this individual's affected sibling (PMID: 23542697). ClinVar contains an entry for this variant (Variation ID: 264760). Experimental studies have reported inconsistent results regarding the potential impact of this missense variant on DEPDC5 protein function (PMID: 25366275). 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. |
Gene |
RCV000254586 | SCV000321057 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2016-04-13 | no assertion criteria provided | literature only |