ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) (rs758413650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216214 SCV000271547 uncertain significance not specified 2014-12-30 criteria provided, single submitter clinical testing The p.Val1283Met variant in CDH23 has not been previously reported in individual s with hearing loss. This variant has been identified in 4/16602 of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org). Although this variant has been seen in the general population, its freq uency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analyses do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Val1283M et variant is uncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513052 SCV000608547 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272890 SCV001455314 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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