ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) (rs746121407)

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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, Partners HealthCare Personalized Medicine RCV000610301 SCV000712721 uncertain significance not specified 2017-01-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val2904Ile va riant in CDH23 has not been previously reported in individuals with hearing loss or in large population studies. Valine (Val) at position 2904 is not conserved in evolutionary distant species and >20 species carry an isoleucine (Ile) at thi s position, raising the possibility that this change may be tolerated. In additi on, computational prediction tools suggest that the p.Val2904Ile variant may not impact the protein. In summary, while the clinical significance of the p.Val290 4Ile variant is uncertain, its lack of conservation suggests that it is more lik ely to be benign.

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