ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) (rs757511744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000254591 SCV000898647 pathogenic Epilepsy, familial focal, with variable foci 1 2018-05-21 criteria provided, single submitter clinical testing DEPDC5 NM_001242896.1 exon 18 p.Arg422* (c.1264C>T): This variant has been reported in the literature in 1 individual with focal epilepsy (Baulac 2015 PMID:25623524). This variant is not present in large control databases. This variant is present in ClinVar (Variation ID:264730). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop at this codon which results in an absent or abnormal protein. Loss of function variants have been reported in association with disease for this gene (Baulac 2016 PMID:27683934). Therefore, this variant classified as pathogenic.
Invitae RCV001245409 SCV001418695 pathogenic Familial focal epilepsy with variable foci 2019-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg422*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with focal epilepsy (PMID: 25623524, 26505888, 30093711). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 264730). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000254591 SCV000321023 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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