ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)

gnomAD frequency: 0.00001  dbSNP: rs1034776233
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001358791 SCV000933751 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 748 of the IKBKAP protein (p.Leu748Arg). This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 641171). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004027484 SCV002755506 uncertain significance not specified 2021-03-29 criteria provided, single submitter clinical testing The p.L748R variant (also known as c.2243T>G), located in coding exon 20 of the IKBKAP gene, results from a T to G substitution at nucleotide position 2243. The leucine at codon 748 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487659 SCV002789295 uncertain significance Medulloblastoma; Familial dysautonomia 2021-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000794350 SCV001457907 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.