ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)

dbSNP: rs769016520
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
Mendelics RCV000757878 SCV000886396 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000757878 SCV001379901 uncertain significance Cystic fibrosis 2019-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 618963). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 234 of the CFTR protein (p.Ala234Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.
Genome-Nilou Lab RCV000757878 SCV002027367 uncertain significance Cystic fibrosis 2021-09-05 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.