Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR2 | RCV000190990 | SCV000245915 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
CFTR- |
RCV000190990 | SCV001169519 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Invitae | RCV000190990 | SCV002107681 | likely pathogenic | Cystic fibrosis | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 16 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with cystic fibrosis (PMID: 25580864). This variant is also known as c.2790-1G>C. ClinVar contains an entry for this variant (Variation ID: 209045). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Natera, |
RCV001833133 | SCV002080786 | pathogenic | CFTR-related disorders | 2017-03-17 | no assertion criteria provided | clinical testing |