Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000007567 | SCV001981596 | pathogenic | Cystic fibrosis | 2020-07-31 | reviewed by expert panel | research | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000007567 | SCV001467852 | pathogenic | Cystic fibrosis | 2020-12-24 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.429delT (p.Phe143LeufsX10) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250646 control chromosomes (gnomAD). c.429delT (also known as 557delT) has been reported in the literature in multiple individuals affected with Cystic Fibrosis (e.g. Schwarz_1995, Hughes_1996, McCague_2019). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000007567 | SCV001583164 | pathogenic | Cystic fibrosis | 2018-10-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in an individual affected with cystic fibrosis (PMID: 1374052). This variant is also known as 557delT in the literature. ClinVar contains an entry for this variant (Variation ID: 7147). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe143Leufs*10) in the CFTR gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV000007567 | SCV002630855 | pathogenic | Cystic fibrosis | 2015-11-25 | criteria provided, single submitter | clinical testing | The c.429delT pathogenic mutation is located in coding exon 4 of the CFTR gene, results from a deletion of one nucleotide at position 429, causing a translational frameshift with a predicted alternate stop codon. This pathogenic mutation was described in a patient with elevated sweat chloride levels, pancreatic insufficiency, and mild pulmonary involvement (Graham CA et al. Genomics 1992;12:854). In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Fulgent Genetics, |
RCV005031409 | SCV005673272 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2024-04-23 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000007567 | SCV000027768 | pathogenic | Cystic fibrosis | 1992-04-01 | no assertion criteria provided | literature only | |
| Natera, |
RCV001831536 | SCV002080138 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |