ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2787G>T (p.Arg929=) (rs201690337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704701 SCV000833660 uncertain significance Familial focal epilepsy with variable foci 2019-11-06 criteria provided, single submitter clinical testing This sequence change affects codon 1007 of the DEPDC5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DEPDC5 protein. This variant also falls at the last nucleotide of exon 30 of the DEPDC5 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs201690337, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with DEPDC5-related disease. Nucleotide substitutions within 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, 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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