Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000047247 | SCV000220603 | likely pathogenic | Cystic fibrosis | 2014-08-20 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV000047247 | SCV001590398 | pathogenic | Cystic fibrosis | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with cystic fibrosis (PMID: 7472820, 12454843, 19481507, 22658665). This variant is also known as c.875+1G>C. ClinVar contains an entry for this variant (Variation ID: 54052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV001509316 | SCV001715950 | likely pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Baylor Genetics | RCV003474617 | SCV004213359 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831802 | SCV002078134 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |