ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1584+1G>A

gnomAD frequency: 0.00001  dbSNP: rs397508230
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576560 SCV000677591 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000576560 SCV000799879 pathogenic Cystic fibrosis 2018-05-09 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000576560 SCV002573814 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PS1_SUP, PM2_SUP, PM3_STR
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000576560 SCV004020669 pathogenic Cystic fibrosis 2023-06-14 criteria provided, single submitter clinical testing Variant summary: CFTR c.1584+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 5' splicing donor site. The variant allele was found at a frequency of 4e-06 in 250482 control chromosomes. c.1584+1G>A has been reported in the literature in individuals affected with Cystic Fibrosis (example, Angelicheva_1997, Kanavakis_2003, Berk_2009, Tosco_2016). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 9099843, 19917960, 33085659, 12752573, 30888834, 27035618). Clinical diagnostic laboratories and a database (CFTR2) have submitted clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV001831730 SCV002080619 pathogenic CFTR-related disorder 2017-03-17 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.