ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1249A>T (p.Asn417Tyr) (rs763518514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465903 SCV000546508 uncertain significance Familial focal epilepsy with variable foci 2019-02-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 417 of the DEPDC5 protein (p.Asn417Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency) and 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"; PolyPhen-2: "Possibly damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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