ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) (rs397517357)

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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 RCV000039283 SCV000062967 uncertain significance not specified 2010-08-19 criteria provided, single submitter clinical testing The Asn2761Lys variant in the CDH23 gene has not been reported in the literature nor previously identified by our laboratory. The Asn (Asparagine) residue is co nserved across mammals and chicken and computational analyses (PolyPhen, SIFT, A lignGVGD) suggest that the Lys (Lysine) variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. It should be noted that this lab has only sequenced the CDH23 gene in 121 individuals such t hat the full spectrum of benign variation has not yet been defined for this gene . Therefore, it is possible that this could be a benign variant. In summary, the clinical significance of this variant cannot be determined with certainty at th is time.

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