ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4520-2A>C

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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 RCV005125968 SCV005755287 uncertain significance Familial focal epilepsy with variable foci 2024-05-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 42 of the DEPDC5 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with autosomal dominant DEPDC5-related epilepsy (PMID: 30868116). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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