ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)

dbSNP: rs764397417
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668673 SCV000793311 likely pathogenic Ellis-van Creveld syndrome 2017-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047674 SCV001211651 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-07-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 19810119, 29229899). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553266). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs764397417, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu560*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543).
Baylor Genetics RCV000668673 SCV001525491 likely pathogenic Ellis-van Creveld syndrome 2020-06-11 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001047674 SCV002813910 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000668673 SCV002083036 pathogenic Ellis-van Creveld syndrome 2021-04-28 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.