ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs)

dbSNP: rs1131691646
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 RCV000641131 SCV000762753 pathogenic Developmental and epileptic encephalopathy, 9 2019-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile508Hisfs*15) in the PCDH19 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with focal seizures and motor semiology (PMID: 22946748), and has also been reported in an individual affected with focal epilepsy and mild intellectual disability (PMID: 20713952). Loss-of-function variants in PCDH19 are known to be pathogenic (PMID: 21053371). For these reasons, this variant has been classified as Pathogenic.

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.