ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2449+1G>A

dbSNP: rs1553893423
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666355 SCV000790634 likely pathogenic Ellis-van Creveld syndrome 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV001378311 SCV001575856 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-08-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the EVC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 551324). This variant has not been reported in the literature in individuals affected with EVC-related conditions.
Fulgent Genetics, Fulgent Genetics RCV001378311 SCV002812208 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-01-21 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000666355 SCV004805341 uncertain significance Ellis-van Creveld syndrome 2024-03-25 criteria provided, single submitter research

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.