ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)

dbSNP: rs121913664
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027609 SCV001190181 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000015041 SCV003442327 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2022-09-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with clinical features of anhidrotic ectodermal dysplasia with T-cell immunodeficiency and/or primary immune deficiency (PMID: 17931563, 32581362; Invitae). This sequence change creates a premature translational stop signal (p.Trp11*) in the NFKBIA gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NFKBIA cause disease. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 14004). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on NFKBIA function (PMID: 17931563, 28629746). 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.
OMIM RCV000015041 SCV000035297 pathogenic Ectodermal dysplasia and immunodeficiency 2 2007-10-01 no assertion criteria provided literature only

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.