Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034679 | SCV000817785 | uncertain significance | Familial focal epilepsy with variable foci | 2019-12-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 1154 of the DEPDC5 protein (p.Ser1154Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs578244490, ExAC 0.008%). This variant has been reported in an individual with focal epilepsy (PMID: 26505888). ClinVar contains an entry for this variant (Variation ID: 264763). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Athena Diagnostics Inc | RCV000991883 | SCV001143718 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000254610 | SCV000321061 | uncertain significance | Epilepsy, familial focal, with variable foci 1 | 2016-04-13 | no assertion criteria provided | literature only |