ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1584G>A (p.Glu528=) (rs1800095)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036518 SCV000110847 benign not specified 2014-10-17 criteria provided, single submitter clinical testing
Invitae RCV000231696 SCV000284997 benign Cystic fibrosis 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001027903 SCV000466516 likely benign CFTR-related disorders 2018-03-06 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422767 SCV000511145 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000036518 SCV000512574 likely benign not specified 2017-12-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282413 SCV000602998 likely benign none provided 2020-08-28 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000231696 SCV000886894 likely benign Cystic fibrosis 2019-08-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422767 SCV000889291 likely benign not provided 2019-06-05 criteria provided, single submitter clinical testing
CFTR-France RCV000231696 SCV001169175 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001012288 SCV001172721 benign Inborn genetic diseases 2017-04-17 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000422767 SCV001334750 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000231696 SCV001737309 likely benign Cystic fibrosis 2021-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001588847 SCV001822063 uncertain significance Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-07-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036518 SCV000060173 not provided not specified 2013-09-27 no assertion provided clinical testing Glu528Glu in exon 11 of CFTR (c.1584G>A, historically known as c.1716G>A): This variant has been shown to result in exon skipping in about 10% of transcripts; however, it is prevalent in many populations (highest allele frequency 6.3% in Puerto Ricans; 1000 Genomes Project; rs1800095) and therefore not expected to cause highly penetrant, Mendelian disease. Consistent with this, it has been identified in combination with a severe CF-causing variant in control populations (Rosendahl 2013). However, several studies have suggested that it may be a predisposing factor to idiopathic chronic pancreatitis, although it is unclear if this predisposition is statistically significant (Casals 2004; Rosendahl 2013; Maire 2003). In summary, this variant may be a risk factor for CF-related disease (chronic pancreatitis). It is not expected to lead to disease on its own or in combination with a pathogenic CFTR variant, but may act in conjunction with other genetic and/or environmental risk factors.
GeneReviews RCV000119037 SCV000153743 benign Hereditary pancreatitis 2014-03-13 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000844954 SCV000986779 not provided Pancreatitis no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02/20/2018 by GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV001027903 SCV001190626 likely benign CFTR-related disorders 2019-05-20 no assertion criteria provided clinical testing

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