ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5820+5G>A

dbSNP: rs2132940635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002275951 SCV002563015 likely pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing CDH23: PM2, PM3, PP3, PP4
Invitae RCV002275951 SCV003441627 uncertain significance not provided 2022-05-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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 disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This sequence change falls in intron 44 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.
Baylor Genetics RCV003475322 SCV004212368 likely pathogenic Pituitary adenoma 5, multiple types 2022-07-06 criteria provided, single submitter clinical testing

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