ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)

gnomAD frequency: 0.00001  dbSNP: rs896581899
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513812 SCV000610525 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000674041 SCV000799313 likely pathogenic Ellis-van Creveld syndrome 2018-04-09 criteria provided, single submitter clinical testing
Invitae RCV001215786 SCV001387548 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln941*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 445803). This variant has not been reported in the literature in individuals affected with EVC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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.