Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003473278 | SCV004212328 | pathogenic | Pituitary adenoma 5, multiple types | 2023-02-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003574706 | SCV004336254 | likely pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 43 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 45988). 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. |
| Laboratory for Molecular Medicine, |
RCV000039223 | SCV000062907 | pathogenic | Rare genetic deafness | 2012-02-20 | no assertion criteria provided | clinical testing | The 5712+1G>A variant in CDH23 has not been reported in the literature. The 5712 +1G>A variant is predicted to cause abnormal splicing because the nucleotide sub stitution occurs in the invariant region of the splice consensus sequence. In su mmary, this variant also meets our criteria to be classified as pathogenic. |