Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000797837 | SCV000937420 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | 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 also known as c.[4105-2A>T, 4105-4G>T]. Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 23591405; Invitae). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change affects an acceptor splice site in intron 32 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). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002501059 | SCV002811663 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2022-02-04 | criteria provided, single submitter | clinical testing |