ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser)

dbSNP: rs1885088030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133719 SCV003815667 uncertain significance Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2022-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396906 SCV004103042 uncertain significance IRF2BPL-related disorder 2023-09-17 criteria provided, single submitter clinical testing The IRF2BPL c.2200C>T variant is predicted to result in the amino acid substitution p.Pro734Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.