ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211815 SCV001383374 uncertain significance Familial focal epilepsy with variable foci 2019-08-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 763 of the DEPDC5 protein (p.Arg763Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs542384516, ExAC 0.001%). 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: "Not Available"; Align-GVGD: "Class C35"). 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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