ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)

dbSNP: rs1928375454
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218626 SCV001390514 uncertain significance Developmental and epileptic encephalopathy, 9 2022-12-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 947530). 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 sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 547 of the PCDH19 protein (p.Ala547Pro).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543523 SCV001762147 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Pediatric Department, Peking University First Hospital RCV001218626 SCV002583535 likely pathogenic Developmental and epileptic encephalopathy, 9 2022-06-01 criteria provided, single submitter research

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.