Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003474485 | SCV004210614 | pathogenic | Pituitary adenoma 5, multiple types | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003779149 | SCV004632562 | pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 31755791). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 65 of the CDH23 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 CDH23 are known to be pathogenic (PMID: 11138009, 21940737). |