ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.827_829del (p.Ser276del)

dbSNP: rs1569315403
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 RCV000703107 SCV000831989 pathogenic Developmental and epileptic encephalopathy, 9 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PCDH19 protein in which other variant(s) (p.Ser276Pro) have been determined to be pathogenic (PMID: 19752159). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 579744). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.827_829del, results in the deletion of 1 amino acid(s) of the PCDH19 protein (p.Ser276del), 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.