ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.728_729del (p.Gly243fs) (rs863223527)

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 RCV000198657 SCV000250066 likely pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing Although the c.728_729delGT variant in the ELN gene has not been previously reported to our knowledge, this variant causes a frameshift starting with codon Glycine 243, changes this amino acid to a Valine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Gly243ValfsX18. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other frameshift variants in the ELN gene have been reported in HGMD in association with ELN-related disorders (Stenson et al., 2014). Thus, while the c.728_729delGT variant has not been published, it is expected 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.