ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1729G>A (p.Val577Ile)

gnomAD frequency: 0.00002  dbSNP: rs573430885
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692055 SCV000819862 uncertain significance Familial focal epilepsy with variable foci 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 577 of the DEPDC5 protein (p.Val577Ile). This variant is present in population databases (rs573430885, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of DEPDC5-related conditions (PMID: 34239491). ClinVar contains an entry for this variant (Variation ID: 571032). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989584 SCV004806171 uncertain significance Epilepsy, familial focal, with variable foci 1 2024-03-25 criteria provided, single submitter clinical testing

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.