Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001001123 | SCV001158263 | pathogenic | not specified | 2019-03-14 | criteria provided, single submitter | clinical testing | The CFTR c.2428A>T; p.Arg810Ter variant (rs377447726), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. CFTR loss-of-function is an established mechanism of disease, and truncating variants downstream of p.Arg810Ter have been reported in individuals with cystic fibrosis and are considered pathogenic (Shackleton 1994, CFTR2 database). Based on available information, the p.Arg810Ter variant is considered to be pathogenic. References: CFTR2 database: https://cftr2.org/ Shackleton S et al. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England. Hum Mutat. 1994;3(2):141-51. |
| Invitae | RCV001056339 | SCV001220780 | pathogenic | Cystic fibrosis | 2019-05-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg810*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CFTR-related conditions. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic. |