ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)

dbSNP: rs1799425190
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
Myriad Genetics, Inc. RCV001264357 SCV001442461 likely pathogenic Cystic fibrosis 2019-04-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001264357 SCV002573928 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: PVS1, PM2_SUP
Ambry Genetics RCV001264357 SCV002705072 pathogenic Cystic fibrosis 2015-02-06 criteria provided, single submitter clinical testing The p.E514* pathogenic mutation (also known as c.1540G>T), located in coding exon 11 of the CFTR gene, results from a G to T substitution at nucleotide position 1540. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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.