ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)

gnomAD frequency: 0.00002  dbSNP: rs750027965
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869434 SCV002167088 pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1771*) 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 present in population databases (rs750027965, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 812254). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001869434 SCV002585225 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505534 SCV002808574 pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-07-02 criteria provided, single submitter clinical testing
GeneDx RCV001869434 SCV003837083 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing Identified in a family with Usher syndrome type I in published literature (Sharon et al., 2020); 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; This variant is associated with the following publications: (PMID: 32037395, 31456290)
Baylor Genetics RCV003473540 SCV004210607 likely pathogenic Pituitary adenoma 5, multiple types 2023-10-03 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002923 SCV001160958 pathogenic Usher syndrome type 1 2019-06-23 no assertion criteria provided research

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