ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.4433A>G (p.Asp1478Gly) (rs201347461)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471430 SCV000546506 uncertain significance Familial focal epilepsy with variable foci 2019-05-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1578 of the DEPDC5 protein (p.Asp1578Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs201347461, ExAC 0.009%). This variant has not been reported in the literature in individuals with DEPDC5-related disease. ClinVar contains an entry for this variant (Variation ID: 407343). 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: "Tolerated"; PolyPhen-2: "Probably 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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