ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3564-1G>C

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Functional Genomics, Research Centre for Medical Genetics RCV003234241 SCV003930383 pathogenic Epilepsy, familial focal, with variable foci 1 criteria provided, single submitter clinical testing The variant c.3564-1G>C in the DEPDC5 gene could be classified as a pathogenic variant according to ACMG criteria (PM2, PVS1, PS3). It is absent from large population studies and databases. It was discovered in a male proband with focal frontal lobe epilepsy. The c.3564-1G>C variant was observed in a heterozygous state and inherited from the mother of the proband. We analyzed the variant using RT-PCR on cDNA obtained from patient's PBMCs. It leads to the destruction of the acceptor splice site of intron 35, followed by activation of the cryptic splice site in exon 36 and, as a result, its shortening by 5 nucleotides. At the mRNA level, it results in the formation of a premature stop codon.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.