ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6809G>A (p.Arg2270His)

gnomAD frequency: 0.00035  dbSNP: rs139409005
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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 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
GeneDx 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)

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