ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8770_8771insTGGCTGTA (p.Ser2924fs) (rs1064795044)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478292 SCV000570459 pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing The c.8770_8771insTGGCTGTA pathogenic variant in the CDH23 gene causes a frameshift starting with codon Serine 2924, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Ser2924MetfsX31. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, we consider this variant to be pathogenic.

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