Submissions for variant NM_001242897.2(DEPDC5):c.2983A>C (p.Ser995Arg) (rs754608531)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001201359	SCV000821459	uncertain significance	Familial focal epilepsy with variable foci	2019-10-08	criteria provided, single submitter	clinical testing	This sequence change replaces serine with arginine at codon 1073 of the DEPDC5 protein (p.Ser1073Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs754608531, ExAC 0.002%). This variant has been observed in an individual affected with familial focal epilepsy with variable foci, however this variant was not observed in this individual's affected sibling (PMID: 23542697). ClinVar contains an entry for this variant (Variation ID: 264760). Experimental studies have reported inconsistent results regarding the potential impact of this missense variant on DEPDC5 protein function (PMID: 25366275). 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.
GeneReviews	RCV000254586	SCV000321057	uncertain significance	Epilepsy, familial focal, with variable foci 1	2016-04-13	no assertion criteria provided	literature only

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