ClinVar Miner

Submissions for variant NM_019009.4(TOLLIP):c.184-1067G>C

gnomAD frequency: 0.12301  dbSNP: rs111521887
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
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001788486 SCV001712130 association Interstitial lung disease 2 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001788487 SCV001712135 uncertain significance Chronic obstructive pulmonary disease 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002472379 SCV001749003 uncertain significance Combined pulmonary fibrosis-emphysema syndrome 2021-05-04 no assertion criteria provided case-control
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV004995925 SCV005044898 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) 2024-05-13 no assertion criteria provided research The NC_000011.10:g.1291476C>G (rs111521887) is an intron variant in TOLLIP (toll interacting protein) that has been associated with idiopathic pulmonary fibrosis and other lung diseases. We evaluated this variant in 923 patients with COVID-19 and we did not find any association with mortality or severity risk. Due to the lack of association of the variant with the studied phenotypes, it was classified as uncertain significance.

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.