ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) (rs77409459)

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 RCV000506655 SCV000603069 pathogenic not specified 2017-03-17 criteria provided, single submitter clinical testing
CFTR2 RCV000007614 SCV000071531 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007614 SCV000485224 pathogenic Cystic fibrosis 2016-02-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007614 SCV000696815 pathogenic Cystic fibrosis 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1013C>T (p.Thr338Ile) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 5/121336 control chromosomes at a frequency of 0.0000412, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in numerous affected individuals in the literature, and has been shown to result in <10% chloride conductance compared to WT. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000007614 SCV000027815 pathogenic Cystic fibrosis 1995-08-01 no assertion criteria provided literature only

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.