ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3889dup (p.Ser1297fs) (rs121908808)

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 RCV000047018 SCV000071484 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507350 SCV000601110 pathogenic not provided 2016-09-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000047018 SCV000696998 pathogenic Cystic fibrosis 2017-07-18 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3889dupT (p.Ser1297Phefs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR 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.3937C>T, p.Gln1313X; c.4077_4080delinsAA, p.Val1360fs). One in silico tool predicts a damaging outcome for this variant. This variant was found in 3/119932 control chromosomes at a frequency of 0.000025, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant was reported in multiple CF patients (Sosnay_Nature Genetics_2013, Behar_Mol Genet Gen Med_2017) and has been reported by reputable databases/clinical labs as pathogenic. Taken together, this variant is classified as pathogenic.
Mendelics RCV000047018 SCV000886211 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000047018 SCV000486295 pathogenic Cystic fibrosis 2016-05-04 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.