ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)

gnomAD frequency: 0.00001  dbSNP: rs1236432902
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 RCV001210635 SCV001382131 uncertain significance Familial focal epilepsy with variable foci 2024-02-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 568 of the DEPDC5 protein (p.Asp568Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 940948). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV003284050 SCV003986004 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.1704C>G (p.D568E) alteration is located in exon 22 (coding exon 21) of the DEPDC5 gene. This alteration results from a C to G substitution at nucleotide position 1704, causing the aspartic acid (D) at amino acid position 568 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.