ClinVar

Description

Variant summary: CFTR c.3389G>C (p.Gly1130Ala) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.1e-05 in 292134 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3389G>C has been reported in the literature in individuals affected with Congenital bilateral absense of the vas deferens (CBAVD) or infertility (Dayangac_2004, Havasi_2010, Ocak_2014, Chamayou_2020) and in an individual with intermediate sweat chloride levels but no diagnosis of Cystic fibrosis (Terlizzi_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 15070876, 16126774, 20100616, 25536748, 31005549, 32357917, 34140271). ClinVar contains an entry for this variant (Variation ID: 53730). Based on the evidence outlined above, the variant was classified as uncertain significance.