Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV001075272 | SCV001240887 | likely pathogenic | Retinal dystrophy | 2017-09-25 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001862605 | SCV002283573 | pathogenic | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 866900). Disruption of this splice site has been observed in individuals with clinical features of Usher syndrome (PMID: 21940737; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 46 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). 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. |
| Baylor Genetics | RCV003473707 | SCV004212324 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-03-03 | criteria provided, single submitter | clinical testing |