ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.28G>A (p.Val10Ile) (rs375027042)

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
GeneDx RCV000480624 SCV000569074 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing The V10I variant in the DEPDC5 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The V10I variant was not observed at any significant frequencein approximately 6,100 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The V10Ivariant is a conservative amino acid substitution, which is not likely to impact secondary proteinstructure as these residues share similar properties. This substitution occurs at a position that isconserved across species. In silico analysis is inconsistent in its predictions as to whether or not thevariant is damaging to the protein structure/function. We interpret V10I as a variant of uncertainsignificance.
Invitae RCV000555417 SCV000642184 uncertain significance Familial focal epilepsy with variable foci 2019-06-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 10 of the DEPDC5 protein (p.Val10Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs375027042, ExAC 0.01%). This variant has not been reported in the literature in individuals with DEPDC5-related disease. ClinVar contains an entry for this variant (Variation ID: 420294). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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.