ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2331_2332del (p.Lys778fs)

dbSNP: rs773589185
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
Invitae RCV003656367 SCV001226677 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POLE-related conditions. This sequence change creates a premature translational stop signal (p.Lys778Alafs*12) in the POLE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLE are known to be pathogenic (PMID: 23230001, 25948378, 30503519). This variant is present in population databases (rs773589185, gnomAD 0.006%). ClinVar contains an entry for this variant (Variation ID: 856449). 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.