ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.-9_14del (p.Met1fs)

dbSNP: rs397508136
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046190 SCV000245966 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046190 SCV000486413 pathogenic Cystic fibrosis 2016-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000046190 SCV000886221 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000046190 SCV002684069 pathogenic Cystic fibrosis 2018-07-26 criteria provided, single submitter clinical testing The c.-9_14del23 pathogenic mutation, located in the 5' untranslated region and coding exon 1 of the CFTR gene, results from a deletion of 23 nucleotides at positions -9 to 14. This alters the methionine residue at the initiation codon (ATG). This mutation was detected in one individual with cystic fibrosis; however, complete genotype and phenotype information were not provided (Alonso MJ et al. Ann. Hum. Genet., 2007 Mar;71:194-201). In addition to the clinical data presented in the literature, since sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame, this alteration is interpreted as a disease-causing mutation.
Natera, Inc. RCV000046190 SCV001464062 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004724786 SCV005337447 pathogenic CFTR-related disorder 2024-09-09 no assertion criteria provided clinical testing The CFTR c.-9_14del23 variant is predicted to disrupt the translation initiation site (Start loss). This variant has been reported in at least eight alleles in cystic fibrosis screening studies and has been identified in a cohort of patients with Cystic Fibrosis of Spanish ancestry (Beauchamp et al. 2019. PubMed ID: 31036917; Raraigh et al. 2021. PubMed ID: 34782259; Alonso et al. 2007. PubMed ID: 17331079). This variant is also referred to in the literature as c.124del23bp, using legacy nomenclature. This variant has not been reported in a large population database, indicating it is rare. In ClinVar, this variant is classified as pathogenic, including by the CF Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/53158/). This variant is interpreted as pathogenic.

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