ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3624del (p.Glu1209fs)

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
Myriad Genetics, Inc. RCV002306774 SCV002602805 likely pathogenic Familial dysautonomia 2022-02-02 criteria provided, single submitter clinical testing NM_003640.3(ELP1):c.3624delA(E1209Kfs*14) is expected to be pathogenic in the context of familial dysautonomia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ELP1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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.