ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066779 SCV001231799 uncertain significance Familial focal epilepsy with variable foci 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 700 of the DEPDC5 protein (p.Gly700Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs767158228, ExAC 0.02%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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