ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) (rs727504532)

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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 RCV000155682 SCV000205392 uncertain significance not specified 2013-11-26 criteria provided, single submitter clinical testing The Pro3336Leu variant in CDH23 has not been previously reported in individuals with hearing loss. Frequency data from large population studies is insufficient. Computational analyses (biochemical amino acid properties, conservation, AlignG VGD, PolyPhen2, and SIFT) suggest that the Pro3336Leu variant may impact the pro tein, though this information is not predictive enough to determine pathogenicit y. In summary, additional data is needed to determine the clinical significance of this variant.

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