ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) (rs397508759)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047199 SCV000245936 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000047199 SCV000221027 likely pathogenic Cystic fibrosis 2015-01-15 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000506873 SCV000331309 pathogenic not provided 2014-08-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506873 SCV000602969 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing The CFTR c.577G>T, p.Glu193Ter variant (rs397508759) has been reported in multiple cystic fibrosis patients, and often associated with pancreatic insufficiency (Ooi 2012, Terlizzi 2014, CFTR2 database). It is listed in ClinVar (Variation ID: 54007), but not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as severely pathogenic. References: CFTR2 database: Ooi C. et al. (2012) Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J Cyst Fibros. 11(5):355-62. Terlizzi V et al. (2014) Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis. J Cyst Fibros. 13(5):579-84.
Fulgent Genetics,Fulgent Genetics RCV000763154 SCV000893741 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2018-10-31 criteria provided, single submitter clinical testing
CFTR-France RCV000047199 SCV001169303 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation

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