ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) (rs1060502176)

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768278 SCV000898866 likely pathogenic Early infantile epileptic encephalopathy 9 2018-06-08 criteria provided, single submitter clinical testing PCDH19 NM_001184880.1 exon 1 p.Pro236Leu (c.707C>T): This variant has been reported in the literature as de novo in 1 individual with early infantile epileptic encephalopthy (Trump 2016 PMID:26993267). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Of note, an additional variant at this codon (p.Pro236Ser) has been reported as de novo and in association with disease, supporting that this region has signifiance. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely 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.