ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) (rs772411576)

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
Counsyl RCV000666619 SCV000790940 uncertain significance Ellis-van Creveld syndrome 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000695404 SCV000823901 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-05-07 criteria provided, single submitter clinical testing This variant, c.1560_1562delAGA, results in the deletion of 1 amino acid of the EVC2 protein (p.Glu520del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772411576, ExAC 0.01%). This variant has been observed in an individual with severe syndromic retinal ciliopathy (PMID: 25044745). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.