ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2233_2355-686del

dbSNP: rs2148952714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379831 SCV001577703 likely pathogenic Familial focal epilepsy with variable foci 2020-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DEPDC5-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 26 (c.2233_2355-686del) of the DEPDC5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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