ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.194-3T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211869 SCV001383431 uncertain significance Familial focal epilepsy with variable foci 2019-10-11 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the DEPDC5 gene. It does not directly change the encoded amino acid sequence of the DEPDC5 protein. This variant is present in population databases (rs749093030, ExAC 0.007%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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