ClinVar Miner

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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