Total submissions: 12
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000047258 | SCV000245931 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000790728 | SCV007110899 | pathogenic | not provided | 2025-10-09 | criteria provided, single submitter | clinical testing | The CFTR c.803del (p.Asn268Ilefs*17) variant alters the translational reading frame of the CFTR mRNA and causes the premature termination of CFTR protein synthesis. This variant has been reported in the published literature in individuals affected with cystic fibrosis (CF) (PMIDs: 10798368 (2000), 10993719 (2000), 11668613 (2001), 26708955 (2016)). The frequency of this variant in the general population (Genome Aggregation Database, http://gnomad.broadinstitute.org) is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. |
| Fulgent Genetics, |
RCV005031483 | SCV005673299 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2024-04-04 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000790728 | SCV004234590 | pathogenic | not provided | 2023-03-20 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003473297 | SCV004213303 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-03-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000047258 | SCV002677493 | pathogenic | Cystic fibrosis | 2024-09-24 | criteria provided, single submitter | clinical testing | The c.803delA pathogenic mutation, located in coding exon 7 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 803, causing a translational frameshift with a predicted alternate stop codon (p.N268Ifs*17). This alteration was described in two individuals with a second CFTR alteration, failure to thrive, meconium ileus, elevated sweat chloride levels, and pancreatic insufficiency (Wang J et al. Mol. Genet. Metab., 2000 Aug;70:316-21). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Johns Hopkins Genomics, |
RCV000047258 | SCV002570324 | pathogenic | Cystic fibrosis | 2022-09-06 | criteria provided, single submitter | clinical testing | Disease-causing CFTR variant. See www.CFTR2.org for phenotype information. |
| Labcorp Genetics |
RCV000047258 | SCV002154271 | pathogenic | Cystic fibrosis | 2025-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn268Ilefs*17) 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). This variant is present in population databases (rs121908772, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 10798368, 18456578, 22975760). This variant is also known as 935delA. ClinVar contains an entry for this variant (Variation ID: 48700). For these reasons, this variant has been classified as Pathogenic. |
| Natera, |
RCV001831714 | SCV002078140 | pathogenic | CFTR-related disorder | 2026-01-19 | criteria provided, single submitter | clinical testing | The c.803delA variant in CFTR is a frameshift variant predicted to shift the reading frame beginning at codon 268 and leads to a stop codon 17 codons downstream. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 27214204, 10993719). Given the available evidence, this variant is classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000047258 | SCV001362679 | pathogenic | Cystic fibrosis | 2019-10-14 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.803delA (p.Asn268IlefsX17) 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 allele was found at a frequency of 2e-05 in 246354 control chromosomes. c.803delA has been reported in the literature in individuals affected with Cystic Fibrosis (example, Orozco_2000, Wong_2001, Wang_2000, Schrijver_2008) as a relatively common CF causing allele identified in US Hispanics (Schrijver_2008). These data indicate that the variant is likely to be associated with disease. No experimental evidence demonstrating an impact on protein function were ascertained or evaluated in the scope of this classification. One clinical diagnostic laboratory and the CFTR2 database have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Myriad Genetics, |
RCV000047258 | SCV001194056 | pathogenic | Cystic fibrosis | 2019-12-04 | criteria provided, single submitter | clinical testing | NM_000492.3(CFTR):c.803delA(N268Ifs*17, aka 935delA) is classified as pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 10993719 and 21416780. Classification of NM_000492.3(CFTR):c.803delA(N268Ifs*17, aka 935delA) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening. |
| Eurofins Ntd Llc |
RCV000790728 | SCV000232063 | pathogenic | not provided | 2013-02-20 | criteria provided, single submitter | clinical testing |