ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp)

dbSNP: rs1375786834
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
Counsyl RCV000672145 SCV000797216 uncertain significance Cystic fibrosis 2018-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000672145 SCV002712423 uncertain significance Cystic fibrosis 2022-07-29 criteria provided, single submitter clinical testing The p.A566D variant (also known as c.1697C>A), located in coding exon 13 of the CFTR gene, results from a C to A substitution at nucleotide position 1697. The alanine at codon 566 is replaced by aspartic acid, an amino acid with dissimilar properties. This alteration has been identified in individuals diagnosed with cystic fibrosis (Alibakhshi R et al. J Cyst Fibros, 2008 Mar;7:102-9; Banjar HH et al. Ann Saudi Med Mar;40:15-24). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003472145 SCV004213553 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-03-02 criteria provided, single submitter 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.