Variant NM_000492.4:c.3194T>G


Variant details:
Name NM_000492.4:c.3194T>G
Protein name NP_000483.3:p.(Leu1065Arg)
Genomic name (hg19)     chr7:g.117251689T>G    UCSC    
Genomic name (hg38) chr7:g.117611635T>G    UCSC
#Exon/intron exon 20
Legacy Name L1065R
Class likely pathogenic
WT sequence ACAAGCTTAAAAGGACTATGGACAC T TCGTGCCTTCGGACGGCAGCCTTAC
Mutant sequence ACAAGCTTAAAAGGACTATGGACAC G TCGTGCCTTCGGACGGCAGCCTTAC

Other databases:
dbSNP
rs121909036



Pathogenicity predictors:




Response to modulators:         +


Reference PMID Modulator in vitro / ex vivo data Clinical data Variant responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yes yes

variant responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n=1 patient for 6-8 weeks)


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CF 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 6495heterozygoteCF-causing- Undef


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



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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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