Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155054 | SCV000204738 | benign | not specified | 2014-03-04 | criteria provided, single submitter | clinical testing | Arg2270His in Exon 49 of CDH23: This variant has been identified in one individu al with Usher syndrome (Bonnet 2011) but has also been detected in 9.4% (205/217 8) chromosomes from a broad population by the 1000 Genomes Project (http://www.1 000genomes.org; dbSNP rs139409005). The arginine (Arg) residue at position 2270 is not conserved through mammals with chimp, tree shrew, mouse, sheep and white rhinoceros having a threonine (Thr). In summary, based on its high frequency in the general population and the presence of the variant amino acid in multiple m ammals, we expect this variant to have no clinical significance. |
Invitae | RCV000882387 | SCV001025623 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000882387 | SCV001756163 | uncertain significance | not provided | 2023-05-24 | criteria provided, single submitter | clinical testing | Reported in an individual with Usher syndrome in published literature; however no additional information was available (Bonnet et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21569298) |