ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1373del (p.Gly458fs)

dbSNP: rs397508196
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046285 SCV000924259 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Counsyl RCV000046285 SCV000486665 likely pathogenic Cystic fibrosis 2016-07-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004448 SCV001163493 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046285 SCV001362618 likely pathogenic Cystic fibrosis 2019-10-04 criteria provided, single submitter clinical testing Variant summary: CFTR c.1373delG (p.Gly458AspfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.1e-05 in 275493 control chromosomes in the gnomAD database, exclusively found within the African or African-American subpopulation (at a frequency of 0.00012). c.1373delG has been reported in the literature in an African American individual affected with Cystic Fibrosis (Macek_1997). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all of them classified the variant as pathogenic (2x) or likely pathogenic (1x). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000046285 SCV000692321 pathogenic Cystic fibrosis 2015-10-28 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.