Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155727 | SCV000205437 | likely benign | not specified | 2013-11-06 | criteria provided, single submitter | clinical testing | 9738+6C>T in Intron 69 of CDH23: This variant is not expected to have clinical s ignificance because it does not diverge from the splice site consensus sequence and computational tools do not predict an impact to splicing. |
Labcorp Genetics |
RCV001042502 | SCV001206185 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 69 of the CDH23 gene. It does not directly change the encoded amino acid sequence of the CDH23 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs727504562, ExAC 0.01%). 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: 178951). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |