ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.869+14A>G (rs1554380834)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588394 SCV000697050 uncertain significance not provided 2017-08-18 criteria provided, single submitter clinical testing Variant summary: The CFTR c.869+14A>G variant involves the alteration of a non-conserved intronic nucleotide and 3/5 splice prediction tools predict no significant impact on normal splicing, along with ESE finder predicting the creation of an ESE binding site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 114382 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. However, internal LCA data reports the variant to occur in a specimen that carried two pathogenic CFTR variants, c.2988+1G>A (classified as pathogenic by LCA) and c.3266G>A (p.Trp1089X - classified as pathogenic by LCA). Therefore, due to the location of this variant and the co-occurrence, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."

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.