ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) (rs376537401)

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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 RCV000155060 SCV000204744 uncertain significance not specified 2014-05-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Leu3340Phe vari ant in CDH23 has not been reported in individuals with hearing loss, but has bee n identified in 0.01% (1/8436) of European American chromosomes by the NHLBI Exo me Sequencing Project ( The amino acid (Leu) at position 3340 is not conserved in mammals or evolutionary distant species, ra ising the possibility that a change at this position may be tolerated. Additiona l computational prediction tools suggest that the Leu3340Phe variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, while the clinical significance of the Leu3340Phe varia nt it is uncertain, the conservation data suggests that it is more likely to be benign.

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