ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) (rs1230303971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243157 SCV001416294 pathogenic not provided 2019-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg736*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome (PMID: 17407589). Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). For these reasons, this variant has been classified as Pathogenic.
Department of biochemistry and genetics, Arak University of Medical sciences RCV000855416 SCV000996525 pathogenic Usher syndrome type 1D 2019-10-24 no assertion criteria provided clinical testing We identified a mutation in c.2206C>T (NM_001171931.1), p.Arg736Ter (NP_071407.4) in the two homozygous brothers with hearing loss and RP.

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