Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000671794 | SCV001981575 | pathogenic | Cystic fibrosis | 2021-09-24 | reviewed by expert panel | research | |
| Counsyl | RCV000671794 | SCV000796814 | likely pathogenic | Cystic fibrosis | 2018-01-02 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002493108 | SCV002797794 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2022-04-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000671794 | SCV003279383 | pathogenic | Cystic fibrosis | 2023-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555883). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 23810505). This variant is present in population databases (rs762844777, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu941Glnfs*27) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000671794 | SCV005039022 | pathogenic | Cystic fibrosis | 2024-03-27 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.2822delT (p.Leu941GlnfsX27) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251410 control chromosomes. c.2822delT has been reported in multiple individuals in the CFTR2 database and in the literature in multiple homozygous individuals affected with Cystic Fibrosis (e.g. Kharrazi_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26574590). ClinVar contains an entry for this variant (Variation ID: 555883). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Natera, |
RCV001829871 | SCV002083548 | pathogenic | CFTR-related disorder | 2018-06-15 | no assertion criteria provided | clinical testing |