ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) (rs886039280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000254595 SCV000944809 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1162 of the DEPDC5 protein (p.Ser1162Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Rolandic epilepsy (PMID: 24591017,  29358611). This variant is also known as c.3457A>G, p.S1153G, and g.32266729A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 264762). This variant has been reported not to substantially affect DEPDC5 protein function (PMID: 25366275). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000254595 SCV000321060 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656076 SCV000588352 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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