ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe)

gnomAD frequency: 0.00001  dbSNP: rs1828702034
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004907695 SCV005575166 uncertain significance not specified 2024-08-05 criteria provided, single submitter clinical testing The c.2148A>C (p.L716F) alteration is located in exon 20 (coding exon 19) of the IKBKAP gene. This alteration results from a A to C substitution at nucleotide position 2148, causing the leucine (L) at amino acid position 716 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040124 SCV005674545 uncertain significance Medulloblastoma; Familial dysautonomia 2024-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278710 SCV001465742 uncertain significance Familial dysautonomia 2020-08-13 no assertion criteria provided clinical testing

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.