ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2203del (p.Arg735fs) (rs397508351)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000577223 SCV001362621 likely pathogenic Cystic fibrosis 2019-05-20 criteria provided, single submitter clinical testing Variant summary: CFTR c.2203delA (p.Arg735GlyfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.2290C>T (p.Arg764X), c.2353C>T (p.Arg785X), and c.2374C>T (p.Arg792X)). The variant was absent in 251276 control chromosomes (gnomAD). c.2203delA has been reported in the literature in an individual affected with Cystic Fibrosis (De Boeck_2004). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577223 SCV000679350 not provided Cystic fibrosis no assertion 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.