ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1428dup (p.Thr477fs)

dbSNP: rs750803248
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481007 SCV000573508 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing The c.1428dupG variant in the CDH23 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1428dupG variant causes a frameshift starting with codon Threonine 477, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Thr477AspfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1428dupG variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1428dupG as a pathogenic variant.
Ambry Genetics RCV000623791 SCV000741975 pathogenic Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000481007 SCV001206221 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 423771). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is present in population databases (rs750803248, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Thr477Aspfs*10) 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).
Johns Hopkins Genomics, Johns Hopkins University RCV001805102 SCV002051771 pathogenic Usher syndrome type 1D 2021-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476174 SCV004212380 likely pathogenic Pituitary adenoma 5, multiple types 2022-02-10 criteria provided, single submitter clinical testing

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