ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) (rs121908754)

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
CFTR2 RCV000007571 SCV000245954 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Myriad Women's Health, Inc. RCV000007571 SCV001193805 likely pathogenic Cystic fibrosis 2019-11-12 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1572C>A(C524*) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 9003508 and 1284466. Classification of NM_000492.3(CFTR):c.1572C>A(C524*) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is observed in an individual with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000007571 SCV000027772 pathogenic Cystic fibrosis 1992-04-01 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.