ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) (rs397508165)

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 RCV000665109 SCV000789175 likely pathogenic Cystic fibrosis 2017-01-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781223 SCV000919127 likely pathogenic not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1135G>T (p.Glu379X) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1327_1330dupGATA, p.Ile444fsX3; c.1340delA, p.Lys447fsX2; c.1365_1366delGG, p.Val456fsX25). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/245610 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in the literature/databases in at least two affected individuals (Lucarelli_2015, SickKids database). Taken together, this variant is classified as likely pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283961 SCV001469491 pathogenic not provided 2019-08-28 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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.