ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2171-11dup

dbSNP: rs769116792
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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 RCV001949935 SCV002198744 uncertain significance Familial focal epilepsy with variable foci 2021-09-15 criteria provided, single submitter clinical testing This sequence change falls in intron 25 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 (rs769116792, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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