ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.643+1G>A (rs1131691482)

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 RCV000493861 SCV000582209 likely pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing The c.643+1 G>A likely pathogenic variant variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.643+1 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.643+1 G>A splice site variant in the ELN gene destroys the canonical splice donor site in intron 12. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site and loss of function variants have been reported in HGMD (Stenson et al., 2014).

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.