ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9278+2dup

dbSNP: rs727502935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150329 SCV000197425 uncertain significance not specified 2013-09-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 9278+2_9278 +3insT variant in CDH23 has not been reported in individuals with hearing loss o r in large population studies. This variant occurs in the 5? splice site and cau ses a divergence from the splice consensus sequence. In addition, computational tools predict altered splicing leading to an abnormal or absent protein. However , additional data is needed to confirm the impact of this variant on the normal splicing of the CDH23 gene. In summary, the clinical significance of this varian t cannot be determined with certainty; however, based upon the change to the spl ice consensus sequence caused by this variant and the computational predictions, we lean towards a more likely pathogenic role.

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