ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205957 SCV001377241 uncertain significance Familial focal epilepsy with variable foci 2019-06-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DEPDC5 gene (p.Tyr1550*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 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 conditions. 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.

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