ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)

gnomAD frequency: 0.00005  dbSNP: rs764462476
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685370 SCV000812848 uncertain significance Familial focal epilepsy with variable foci 2024-12-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1395 of the DEPDC5 protein (p.Ala1395Thr). This variant is present in population databases (rs764462476, gnomAD 0.02%). This missense change has been observed in individual(s) with focal cortical dysplasia (PMID: 37006128). ClinVar contains an entry for this variant (Variation ID: 565734). 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.
GeneDx RCV001592860 SCV001814554 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001592860 SCV004234305 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026195 SCV004856313 likely benign Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.