ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)

gnomAD frequency: 0.00001  dbSNP: rs1720937470
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001235949 SCV001408658 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This nonsense change has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 22406498). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp215*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product.

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.