ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) (rs1800130)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079002 SCV000110871 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079002 SCV000205166 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro1290Pro in exon 23 of CFTR: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 15.1% (665/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800130).
PreventionGenetics,PreventionGenetics RCV000079002 SCV000304494 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095148 SCV000466524 benign CFTR-related disorders 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079002 SCV000602977 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV000289147 SCV001000585 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
CFTR-France RCV000289147 SCV001169174 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001021329 SCV001182931 benign Inborn genetic diseases 2014-11-19 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory,University of Chicago RCV000079002 SCV000150652 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
GeneReviews RCV000119036 SCV000153742 benign Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000289147 SCV001338833 benign Cystic fibrosis 2020-01-30 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.