Submissions for variant NM_001242897.2(DEPDC5):c.3571C>T (p.Arg1191Cys) (rs202227830)

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
Ambry Genetics	RCV000717373	SCV000848223	uncertain significance	Seizures	2016-11-11	criteria provided, single submitter	clinical testing	Insufficient evidence
Invitae	RCV001046107	SCV001209995	uncertain significance	Familial focal epilepsy with variable foci	2019-12-03	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 1291 of the DEPDC5 protein (p.Arg1291Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs202227830, ExAC 0.02%). This variant has not been reported in the literature in individuals with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 588427). 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: "Deleterious"; PolyPhen-2: "Not Available"; 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.