ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1716dup (p.Val573fs) (rs1554683650)

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
GeneDx RCV000599488 SCV000710221 pathogenic not provided 2018-06-11 criteria provided, single submitter clinical testing The c.1716dupA pathogenic variant in the ELN gene causes a frameshift starting with codon Valine 573, changes this amino acid to a Serine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Val573SerfsX19. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.1716dupA variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is 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.