ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) (rs397508464)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505966 SCV000603054 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
CFTR2 RCV000588283 SCV000924242 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Counsyl RCV000588283 SCV000789400 likely pathogenic Cystic fibrosis 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763149 SCV000893736 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588283 SCV000696938 pathogenic Cystic fibrosis 2017-05-01 criteria provided, single submitter clinical testing Variant summary: The CFTR c.293A>G (p.Gln98Arg) variant involves the alteration of a conserved nucleotide located in the ABC transporter type 1, transmembrane domain of the protein (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 2/119728 control chromosomes at a frequency of 0.0000167, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in numerous CF patients with diverse ethnicity background including Caucasians, African Americans, and Asians. The variant in these patients present both homozygously and compound heterozygously. Taken together, this variant is classified as pathogenic.

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.