ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3836C>A (p.Ser1279Tyr) (rs765244692)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535844 SCV000642197 uncertain significance Familial focal epilepsy with variable foci 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1379 of the DEPDC5 protein (p.Ser1379Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs765244692, ExAC 0.04%). This variant has not been reported in the literature in individuals with a 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"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on DEPDC5 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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