ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1744del (p.Ala582fs) (rs727503783)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150643 SCV000197980 pathogenic Supravalvar aortic stenosis 2011-07-28 criteria provided, single submitter clinical testing The Ala582fs variant in ELN has not been reported in the literature nor previous ly been identified by our laboratory. This variant results in a frameshift begin ning at position 582. Two ELN mRNAs have been reported for this position and the Ala582fs variant creates a premature stop in both (31 amino acids downstream: N M_000501.2; 64 amino acids downstream: Tassabehji 1997). A premature stop codon at this position typically leads to mRNA degradation and therefore a heterozygou s loss of function, which is an established mechanism of disease for the ELN gen e (Human Gene Mutation Database, HGMD). Parental studies demonstrated de novo oc currence, which strongly supports a disease causing role.

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.