ClinVar

Description

The CFTR c.1766+1G>C variant (rs121908748) is reported in the literature in individuals affected with pancreatic-insufficient cystic fibrosis (Cuppens 1993, Zietkiewicz 2014, CFTR2 database) and was identified in trans to p.Phe508del in at least one affected individual (Zietkiewicz 2014). The c.1766+1G>C variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism, and it is reported as pathogenic by several laboratories in ClinVar (Variation ID: 53376). This variant abolishes the canonical splice donor site of intron 12, which is likely to disrupt gene function. Based on available information, this variant is considered to be severely pathogenic. References: CFTR2 database: https://cftr2.org/ Cuppens H et al. Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics. 1993 Dec;18(3):693-7. Zietkiewicz E et al. CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. PLoS One. 2014 Feb 26;9(2):e89094.