ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1428dup (p.Thr477fs) (rs750803248)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623791 SCV000741975 pathogenic Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
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.

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