ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)

gnomAD frequency: 0.00003  dbSNP: rs766517046
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
Invitae RCV001308313 SCV001497756 uncertain significance not provided 2020-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1256 of the IKBKAP protein (p.Gln1256Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs766517046, ExAC 0.001%). This variant has not been reported in the literature in individuals with a IKBKAP-related disease. 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: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, this variant has uncertain impact on IKBKAP function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002483349 SCV002784391 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000553861 SCV001452814 uncertain significance Familial dysautonomia 2020-09-16 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.