ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) (rs1060501487)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457840 SCV000546504 pathogenic Epilepsy, familial focal, with variable foci 1 2016-05-08 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 22 of the DEPDC5 mRNA (c.1845delG), causing a frameshift at codon 615. This creates a premature translational stop signal (p.Arg615Serfsx47) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). While this particular variant has not been reported in the literature, truncating variants in DEPDC5 are known to be pathogenic (PMID: 25599672, 26505888). For these reasons, this variant has been classified as Pathogenic.

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