ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)

dbSNP: rs866435331
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624916 SCV000741976 pathogenic Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386697 SCV001587035 pathogenic not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1081*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 20613545). This variant is also known as p.R1086X. ClinVar contains an entry for this variant (Variation ID: 521399). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001386697 SCV002028488 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Identified in a patient with hearing loss in published literature, but patient-specific clinical information was not provided (Kimberling et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20613545, 35020051)
Johns Hopkins Genomics, Johns Hopkins University RCV001805224 SCV002051770 pathogenic Usher syndrome type 1D 2021-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568339 SCV005060196 pathogenic Pituitary adenoma 5, multiple types 2023-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834974 SCV002088040 pathogenic Usher syndrome type 1 2020-11-23 no assertion criteria provided clinical testing

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