ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val)

gnomAD frequency: 0.00001  dbSNP: rs766924822
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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, Mass General Brigham Personalized Medicine RCV000214370 SCV000271572 uncertain significance not specified 2015-07-06 criteria provided, single submitter clinical testing The p.Ile2802Val variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/6540 of Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Ile2802Val variant is uncertain.
Natera, Inc. RCV001828067 SCV002091877 uncertain significance Usher syndrome type 1 2021-09-28 no assertion criteria provided clinical testing

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