ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2245C>T (p.Leu749=) (rs151235408)

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
PreventionGenetics,PreventionGenetics RCV000247513 SCV000304478 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001085588 SCV000625731 likely benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586139 SCV000696891 likely benign not provided 2016-04-20 criteria provided, single submitter clinical testing Variant summary: The variant affects a conserved nucleotide and results in a synonymous mutation. 5/5 in silico tools predict the variant not to have an impact on splicing while mutation taster predicts the variant to be disease causing. It was predominantly observed in the Non-Finnish European subcohort of the ExAC project at an allele frequency of 0.096% which does not exceed the maximal expected allele frequency of a disease causing CFTR allele (1.3%). It has been reported in patients with wide spectrum of CFTR-related disorders (CF, CBAVD, asthma and COPD) as well as in healthy population and often reported as polymorphism. In one CBAVD patient, this variant was found in cis with R764X (Pallares-Ruiz_1999). In addition, according to Bombieri, it does not lead to exon skipping, suggesting it is indeed not pathogenic. Considering all evidence, the variant was classified as Likely Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586139 SCV000703406 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000247513 SCV000883595 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014911 SCV001175682 likely benign Inborn genetic diseases 2015-04-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163688 SCV001325752 uncertain significance CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV001085588 SCV001338837 likely benign Cystic fibrosis 2020-02-28 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.