ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2054G>A (p.Arg685His) (rs542384516)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560272 SCV000642173 uncertain significance Familial focal epilepsy with variable foci 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 763 of the DEPDC5 protein (p.Arg763His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs542384516, ExAC 0.02%). This variant has not been reported in the literature in individuals with DEPDC5-related disease. ClinVar contains an entry for this variant (Variation ID: 466467). 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"; 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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