ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1381G>A (p.Ala461Thr) (rs771161131)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642477 SCV000764160 uncertain significance Familial focal epilepsy with variable foci 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 461 of the DEPDC5 protein (p.Ala461Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs771161131, 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: 534787). 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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