ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) (rs1800089)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588804 SCV000696841 likely benign not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1399C>T (p.Leu467Phe) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. The variant of interest has not, to our knowledge, been evaluated for functional impact by in vivo/vitro studies. This variant was found in 6/121214 control chromosomes at a frequency of 0.0000495, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). Although this variant has been observed in three CF patients and 1 CFTR-RD pt; several pts had this variant in cis with a known pathogenic mutation, p.delF508. In other two patients, second mutation is not specified. In another subject who had this variant and p.delF508 with phase unspecified, dx CF was not established. Reported as "rare polymorphism" by multiple authors. At least three internal samples showed that this variant was in cis with p.delF508. Taken together, this variant is classified as likely benign until more evidence becomes available.
Mendelics RCV000577709 SCV000886158 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000577709 SCV001167224 likely benign Cystic fibrosis 2019-08-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588804 SCV001250506 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000577709 SCV001523280 uncertain significance Cystic fibrosis 2020-06-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000588804 SCV001714236 uncertain significance not provided 2020-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000577709 SCV001822052 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577709 SCV000679106 not provided Cystic fibrosis no assertion 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.