ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6253+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1748135455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230921 SCV001403421 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change falls in intron 47 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. 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: 957858). 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 may create or strengthen a splice site. 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.
Natera, Inc. RCV001828844 SCV002092633 uncertain significance Usher syndrome type 1 2021-06-27 no assertion criteria provided clinical testing

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