ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) (rs564667614)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717165 SCV000848013 uncertain significance Seizures 2017-05-11 criteria provided, single submitter clinical testing Conflicting evidence
Invitae RCV001034645 SCV000964788 uncertain significance Familial focal epilepsy with variable foci 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 864 of the DEPDC5 protein (p.Thr864Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs564667614, ExAC 0.05%). This variant has been observed in several individuals affected with epilepsy (PMID: 24283814, 28717674). ClinVar contains an entry for this variant (Variation ID: 180645). This variant has been reported not to substantially affect 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.
OMIM RCV000157607 SCV000207416 pathogenic Epilepsy, familial focal, with variable foci 1 2014-12-01 no assertion criteria provided literature only
GeneReviews RCV000157607 SCV000321055 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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