ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)

dbSNP: rs144781064
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576710 SCV000677606 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000576710 SCV000886296 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576710 SCV002240816 pathogenic Cystic fibrosis 2021-02-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects codon 1239 of the CFTR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CFTR protein. This variant also falls at the last nucleotide of exon 22, which is part of the consensus splice site for this exon. This variant is present in population databases (rs144781064, ExAC 0.002%). This variant has been observed in individual(s) with cystic fibrosis (PMID: 31523618, 30450785, 1376017). This variant is also known as 3849G>A. ClinVar contains an entry for this variant (Variation ID: 53791). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.
Institute of Human Genetics, University of Leipzig Medical Center RCV000576710 SCV002573859 likely pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 2 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PM2_SUP, PM3_STR, PP3, PP4
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576710 SCV000679447 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV000576710 SCV001454278 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided 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.