ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) (rs373276722)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000155442 SCV000297305 uncertain significance not specified 2015-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764917 SCV000896080 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155442 SCV000205132 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Arg1334Trp variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 0.02% (1/4114) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs373276722). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses suggest that the Arg1334Trp v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the Arg1334 Trp variant is uncertain.

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