ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1584G>A (p.Glu528=) (rs1800095)

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Total submissions: 12
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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 2017-08-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000231696 SCV000466516 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000036518 SCV000601052 likely benign not specified 2017-05-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036518 SCV000602998 uncertain significance not specified 2017-06-23 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000231696 SCV000886894 likely benign Cystic fibrosis 2019-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422767 SCV000889291 likely benign not provided 2018-06-08 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.

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