ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4243-7del

dbSNP: rs878854021
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227990 SCV000285007 likely benign Cystic fibrosis 2024-03-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506184 SCV000601120 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
CFTR-France RCV001009482 SCV001169577 pathogenic CFTR-related disorder 2018-03-26 criteria provided, single submitter curation
Mayo Clinic Laboratories, Mayo Clinic RCV001508590 SCV001714847 uncertain significance not provided 2019-12-12 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000227990 SCV004024521 uncertain significance Cystic fibrosis 2023-06-06 criteria provided, single submitter clinical testing This CFTR intronic variant (rs878854021) is rare (<0.1%) in a large population dataset (gnomADv3.1.2: 6/152142 total alleles; 0.004%; no homozygotes) and has been reported in ClinVar (Variation ID:237857). It has not been reported in the literature in individuals with cystic fibrosis, to our knowledge. Bioinformatic analysis predicts that this intronic variant may weaken the native acceptor splice site although this has not been confirmed experimentally to our knowledge. We consider the clinical significance of CFTR c.4243-7del to be uncertain at this time.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001508590 SCV004564331 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing The CFTR c.4243-7del variant (rs878854021), to our knowledge, is not reported in the medical literature but is reported in the CFTR- France database in 2 individuals with CBAVD when found in trans with another pathogenic variant (see link). This variant is reported in ClinVar (Variation ID: 237857) and is found in the non-Finnish European population with an allele frequency of 0.005% (5/112352 alleles) in the Genome Aggregation Database. This is an intronic deletion, and computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of this variant is uncertain at this time. References: Link to CFTR France: https://cftr.iurc.montp.inserm.fr/cftr/

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