ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) (rs1569254004)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694335 SCV000822775 pathogenic Epilepsy, familial focal, with variable foci 1 2018-02-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DEPDC5 gene (p.Gln1501Hisfs*74). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acids of the DEPDC5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DEPDC5-related disease. Different truncations (p.Gln1523* and p.Gln1536*) that lie downstream of this variant have been determined to be pathogenic (PMID: PMID: 23542701, 25366275, 23542697). This suggests that deletion of this region of the DEPDC5 protein is causative of disease. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.

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