ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)

dbSNP: rs1367694162
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001386071 SCV001586162 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu656*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC2-related conditions. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001386071 SCV002782075 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-04-18 criteria provided, single submitter clinical testing

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.