ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) (rs773569201)

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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759033 SCV000888074 uncertain significance not provided 2020-01-10 criteria provided, single submitter clinical testing
Invitae RCV000803536 SCV000943414 uncertain significance Cystic fibrosis 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with tyrosine at codon 575 of the CFTR protein (p.Phe575Tyr). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is present in population databases (rs773569201, ExAC 0.002%). This variant has been observed in an individual affected with recurrent pancreatitis (PMID: 17003641). This variant has been reported to affect CFTR protein function (PMID: 29805046). 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.
Johns Hopkins Genomics, Johns Hopkins University RCV000803536 SCV001433653 pathogenic Cystic fibrosis 2019-12-16 criteria provided, single submitter clinical testing CFTR variant associated with variable clinical consequences. See for phenotype information.
Natera, Inc. RCV000803536 SCV001460200 uncertain significance Cystic fibrosis 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.