ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.233G>C (p.Arg78Pro) (rs373578854)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642489 SCV000764172 uncertain significance Familial focal epilepsy with variable foci 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 78 of the DEPDC5 protein (p.Arg78Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs373578854, ExAC 0.01%), 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.

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