ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)

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
Neuberg Centre For Genomic Medicine, NCGM RCV002510650 SCV002820150 uncertain significance Epilepsy, familial focal, with variable foci 1 criteria provided, single submitter clinical testing The amino acid Val at position 1296 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. This variant has not been reported in affected individuals. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Val1296Ala in DEPDC5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The p.Val1296Ala variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is classified as uncertain significance as per ACMG guidelines.

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.