Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001957737 | SCV002211050 | pathogenic | Cystic fibrosis | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser489Leufs*13) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1438022). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. |
| Baylor Genetics | RCV003475191 | SCV004213272 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001957737 | SCV005077023 | pathogenic | Cystic fibrosis | 2024-04-22 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1465_1469delTCATT (p.Ser489LeufsX13) 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 was absent in 251326 control chromosomes. To our knowledge, no occurrence of c.1465_1469delTCATT in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1438022). Based on the evidence outlined above, the variant was classified as pathogenic. |