Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
RCV001275579 | SCV001460828 | uncertain significance | Usher syndrome type 1 | 2020-04-17 | no assertion criteria provided | clinical testing |