ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2573del (p.Ser858fs)

dbSNP: rs1562908997
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323722 SCV000919202 pathogenic Cystic fibrosis 2023-07-10 criteria provided, single submitter clinical testing Variant summary: CFTR c.2573delG (p.Ser858ThrfsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 251324 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2573delG in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003472317 SCV004213348 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825531 SCV002080775 likely pathogenic CFTR-related disorder 2017-03-16 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.