ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) (rs756425157)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000610868 SCV000713323 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing The p.Val3343Met variant in CDH23 has been reported in 1 Japanese individual wit h hearing loss who did not carry a second variant in the CDH23 gene (Mizutari 20 15). It has also been identified in 5/18656 East Asian chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs7564251 57). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Val3343Met va riant is uncertain.
Natera, Inc. RCV001271960 SCV001453535 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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