ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6809G>A (p.Arg2270His) (rs139409005)

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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, Partners HealthCare 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; 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 2019-12-31 criteria provided, single submitter clinical testing

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