ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) (rs121908425)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255270 SCV000322261 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing The R340X pathogenic variant in the EVC gene has been reported previously in Ellis-van Creveldsyndrome, in an affected individual who was compound heterozygous for the R340X variant andanother protein truncating variant (Ruiz-Perez et al., 2000). This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. TheR340X variant was not observed in approximately 6500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret R340X as a pathogenic variant.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000005668 SCV000788394 pathogenic Ellis-van Creveld syndrome 2018-05-01 criteria provided, single submitter research
Invitae RCV000807465 SCV000947518 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg340*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908425, ExAC 0.01%). This variant has been observed in several individuals affected with EVC-related conditions (PMID: 10700184, 29068549, 17024374). ClinVar contains an entry for this variant (Variation ID: 5340). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005668 SCV000025850 pathogenic Ellis-van Creveld syndrome 2000-03-01 no assertion criteria provided literature only
Dan Cohn Lab,University Of California Los Angeles RCV000516113 SCV000612079 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
Counsyl RCV000005668 SCV000795981 pathogenic Ellis-van Creveld syndrome 2017-11-26 no assertion criteria provided 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.