ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile)

dbSNP: rs182287137
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 RCV001314908 SCV001505458 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a IKBKAP-related disease. This sequence change replaces leucine with isoleucine at codon 752 of the IKBKAP protein (p.Leu752Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.
Natera, Inc. RCV000457066 SCV002082091 uncertain significance Familial dysautonomia 2021-07-12 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.