ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) (rs1060501488)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474159 SCV000546532 pathogenic Epilepsy, familial focal, with variable foci 1 2018-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 145 (p.W145*) of the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in DEPDC5 are known to be pathogenic (PMID: 23542697). In addition, a different variant (c.435G>A) giving rise to the same protein effect observed here (p.W145*) has been reported in two affected and one unaffected individuals from a single family (PMID: 26505888). For these reasons, this variant has been classified as Pathogenic.

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