Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000007580 | SCV000071458 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
| Mendelics | RCV000007580 | SCV000886216 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004510 | SCV001163555 | pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
| CFTR- |
RCV000007580 | SCV001169346 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
| Labcorp Genetics |
RCV000007580 | SCV001587714 | pathogenic | Cystic fibrosis | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 23 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with CFTR-related conditions (PMID: 1284639, 19318346, 23974870, 26348465, 28603918). This variant is also known as 4005+1G>A. ClinVar contains an entry for this variant (Variation ID: 7160). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002496298 | SCV002810477 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2021-08-19 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003736536 | SCV004562739 | pathogenic | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | The CFTR c.3873+1G>A variant (rs143570767), also known as c.4005+1G>A in traditional nomenclature, is reported in the literature in the compound heterozygous state with other pathogenic variants in individuals affected with cystic fibrosis (Beauchamp 2019, Raraigh 2022, Sosnay 2013). This variant is reported in ClinVar (Variation ID: 7160) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 23, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. References: Beauchamp KA, et al. Sequencing as a first-line methodology for cystic fibrosis carrier screening. Genet Med. 2019. PMID: 31036917 Raraigh KS, et al. Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment. J Cyst Fibros. 2022. PMID: 34782259. Sosnay PR, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013. PMID: 23974870. |
| OMIM | RCV000007580 | SCV000027781 | pathogenic | Cystic fibrosis | 1992-06-01 | no assertion criteria provided | literature only | |
| Counsyl | RCV000007580 | SCV000793688 | pathogenic | Cystic fibrosis | 2017-08-22 | no assertion criteria provided | clinical testing | |
| Natera, |
RCV001831540 | SCV002075896 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |