Variant NM_000492.4:c.617T>G


Variant details:
Name NM_000492.4:c.617T>G
Protein name NP_000483.3:p.(Leu206Trp)
Genomic name (hg19) chr7:g.117175339T>G    UCSC    
#Exon/intron exon 6
Legacy Name L206W
Class disease-causing
Subclass varying clinical consequence
complex allele in 5.07% of patients associated with
  • c.1210-34_1210-6TG[9]T[9] : 100.00%
    • WT sequence GCACATTTCGTGTGGATCGCTCCTT T GCAAGTGGCACTCCTCATGGGGCTA
    Mutant sequence GCACATTTCGTGTGGATCGCTCCTT G GCAAGTGGCACTCCTCATGGGGCTA

    Other databases:
    dbSNP
    rs121908752



    Pathogenicity predictors:

    Functional studies:


    Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
    Clain et al, 2005 15776432 ✓ ✓ ✓
    Van Goor et al, 2014 23891399 ✓ ✓ ✓
    Sosnay et al, 2013 23974870 ✓ ✓


    « ✓ » indicates the type of analysis performed and not the results


    Response to modulators:


    Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
    IVA yesnono yes
    TEZ-IVA yes yesno yes
    ELX-TEZ-IVA yesnoyesno


    clinical and functional data are provided by Vertex


    No patient found in CFTR-NGS catalogue


    138 patients carrying this variant are reported in CFTR-France:

    TOTAL NUMBER OF PATIENTS 138
    Asymptomatic compound heterozygote 3
    CF 28
    CFTR-RD72
    • Bronchiectasis  9
    • CBAVD  47
    • CRS-NP  1
    • Other  7
    • Pancreatitis  8
    Pending 2
    Pending (NBS) 30
    Pending non-CF 3




    Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



    Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



                CFTR variants are clustered into five groups:
    • CF-causing: when in trans with another CF-causing mutation, will result in CF.
    • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
    • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
    • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
    • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.



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