ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1703del (p.Leu568fs) (rs397508274)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576635 SCV000677594 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755914 SCV000883569 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing The CFTR c.1703delT, p.Leu568fs variant (also known as 1833delT) has been reported in patients with cystic fibrosis (SickKids CFTR database, CFTR2 databases), but the clinical symptoms were not described. It is listed in the ClinVar database (Variation ID: 53349) and the dbSNP variant database (rs397508274), but not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Exome Aggregation Consortium). The variant introduces a frameshift, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic, with uncertain clinical severity. References: CFTR2 database: http://cftr2.org SickKids CFTR database: http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=292
CFTR-France RCV000576635 SCV001169396 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576635 SCV000678920 not provided Cystic fibrosis no assertion provided literature only

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