Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001004342 | SCV001163269 | pathogenic | Usher syndrome type 1 | criteria provided, single submitter | clinical testing | ||
| Baylor Genetics | RCV003473549 | SCV004212289 | pathogenic | Pituitary adenoma 5, multiple types | 2023-05-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003558635 | SCV004294748 | pathogenic | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change affects codon 2624 of the CDH23 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDH23 protein. This variant also falls at the last nucleotide of exon 55, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with Usher Syndrome (PMID: 12075507, 21940737, 33089500). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 813418). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 20052763). For these reasons, this variant has been classified as Pathogenic. |