ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1472G>T (p.Cys491Phe) (rs778205742)

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
Counsyl RCV000671206 SCV000796158 uncertain significance Cystic fibrosis 2017-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002051 SCV001159877 uncertain significance not specified 2018-08-21 criteria provided, single submitter clinical testing The CFTR c.1472G>T; p.Cys491Phe variant (rs397508213), is reported in the literature in at least one individual affected with congenital bilateral absence of vas deferens (Li 2012). This variant is reported as uncertain significance in ClinVar (Variation ID: 555390), and is found in the South Asian population with an overall allele frequency of 0.03% (10/30,782 alleles) in the Genome Aggregation Database. The cysteine at codon 491 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Cys491Phe variant is uncertain at this time. References: Li H et al. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. J Cyst Fibros. 2012 Jul;11(4):316-23.

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.