ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.-226G>T

gnomAD frequency: 0.00422  dbSNP: rs73717525
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000043700 SCV000071713 likely benign Cystic fibrosis 2023-04-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000727142 SCV000601073 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in individuals with cystic fibrosis (PMIDs: 31665830 (2020), 18832460 (2008), 11168023 (2001), 10204861 (1999)). Functional studies indicate this variant may impact promoter activity but not at a significant difference from the wild type (PMIDs: 17678620 (2007), 21948798 (2012)). The frequency of this variant in the general population, 0.014 (117/8656 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000727142 SCV000706119 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000727142 SCV001810789 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing Published functional studies demonstrate decreased Sp1 and USF DNA-binding and decreased transcriptional activity in one study that utilized a core promoter construct, but the associated transcriptional activity was not significantly different from wild type in a second study that utilized a full-length promoter construct (PMID: 17678620, 21948798); Identified in individuals with cystic fibrosis in published literature, but in whom a second CFTR variant was either not detected or not specified (PMID: 10204861, 31665830, 18832460); Describes a nucleotide substitution 226 basepairs upstream of the ATG translational start site in the 5' untranslated region (UTR); Also known as c.-94G>T; This variant is associated with the following publications: (PMID: 12939925, 26656651, 11168023, 31665830, 18832460, 21948798, 10204861, 37313453, 17678620)
Ambry Genetics RCV000043700 SCV002736623 benign Cystic fibrosis 2015-08-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000727142 SCV003831632 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727142 SCV004565191 likely benign not provided 2023-11-15 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.