ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)

dbSNP: rs1596427937
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821263 SCV000962017 likely pathogenic Developmental and epileptic encephalopathy 94 2018-12-03 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in an individual affected with CHD2-related disorder (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.2652_2654delCTT, results in the deletion of 1 amino acid(s) of the CHD2 protein (p.Phe885del), but otherwise preserves the integrity of the reading frame.

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.