ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1973del (p.Pro658fs)

dbSNP: rs2486562061
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002513096 SCV003440061 pathogenic Supravalvar aortic stenosis 2022-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro720Glnfs*29) in the ELN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELN are known to be pathogenic (PMID: 11175284). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant is also known as 2039delC. This premature translational stop signal has been observed in individual(s) with autosomal dominant cutis laxa (PMID: 9873040, 16085695).
OMIM RCV000018212 SCV000038491 pathogenic Cutis laxa, autosomal dominant 1 1995-03-01 no assertion criteria provided literature only

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.