ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.741del (p.Thr248fs)

dbSNP: rs727503026
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, Mass General Brigham Personalized Medicine RCV000150635 SCV000197970 likely pathogenic Supravalvar aortic stenosis 2011-05-27 criteria provided, single submitter clinical testing The Thr248fs variant has not been reported in the literature nor previously been identified by our laboratory. However, it is predicted to cause a frameshift, w hich alters the protein's amino acid sequence beginning at codon 248 and leads t o a premature stop codon 75 amino acids downstream. This alteration is predicted to lead to a truncated or absent protein and therefore to a heterozygous loss o f function of the Elastin (ELN) gene. Loss of function variants in ELN are an es tablished mechanism of disease in SVAS (Human Gene Mutation Database, HGMD). In summary, the Thr248fs variant is likely to be pathogenic.

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.