ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.193del (p.Leu65fs) (rs796051861)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254862 SCV000322306 pathogenic not provided 2016-04-07 criteria provided, single submitter clinical testing The c.193delC variant in the CDH23 gene has been reported previously in the compound heterozygous state with a second pathogenic variant in an individual with atypical Usher syndrome (Astuto et al., 2002). The c.193delC variant causes a frameshift starting with codon Leucine 65, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Leu65TrpfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.193delC variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.193delC as a pathogenic variant.
OMIM RCV000005207 SCV000025384 pathogenic Usher syndrome type 1D 2005-01-01 no assertion criteria provided literature only
OMIM RCV000005208 SCV000025385 pathogenic USHER SYNDROME, TYPE ID/F, DIGENIC 2005-01-01 no assertion criteria provided literature only
GeneReviews RCV000215123 SCV000268757 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only

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