ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2778A>G (p.Lys926=) (rs751179612)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630702 SCV000751668 likely benign Familial dysautonomia 2017-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757405 SCV000885612 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing The c.2778A>G variant has not been previously associated with any peripheral neuropathy. This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish Europeans of 0.004% (identified in 4 out of 111,180 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.9), does not alter the amino acid sequence of IKBKAP protein, and is not predicted to alter IKBKAP mRNA splicing (Alamut software v 2.9). Therefore, the c.2778A>G variant is likely to be benign.

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.