ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2836G>A (p.Val946Met) (rs931850625)

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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 RCV000602137 SCV000731704 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing The p.Val946Met variant in CDH23 has not been previously identified in individua ls with hearing loss, but has been identified in 2/15136 African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs931850625). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the p.Val 946Met variant is uncertain.

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