ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.893del (p.His298fs)

gnomAD frequency: 0.00001  dbSNP: rs777505711
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
Counsyl RCV000667995 SCV000792533 likely pathogenic Ellis-van Creveld syndrome 2017-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485541 SCV002792098 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002485541 SCV004568253 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His298Profs*15) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (rs777505711, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 552689). 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.