ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)

gnomAD frequency: 0.00001  dbSNP: rs761082272
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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, Mass General Brigham Personalized Medicine RCV000602312 SCV000712073 uncertain significance not specified 2016-05-02 criteria provided, single submitter clinical testing The p.Arg2222Cys variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 5/63898 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs761082272). Although this variant has been seen in the genera l population, its frequency is not high enough to rule out a pathogenic role. Th e arginine (Arg) at position 2222 is not highly conserved in mammals and evoluti onary distant species, and one mammal (Chinese hamster) carries a cysteine (Cys) at this position, raising the possibility that this change at this position may be tolerated. Additional computational prediction tools do not provide strong s upport for or against an impact to the protein. In summary, the clinical signif icance of this variant is uncertain.
Invitae RCV001241141 SCV001414136 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275579 SCV001460828 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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