ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)

gnomAD frequency: 0.00001  dbSNP: rs373462599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057248 SCV001221731 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449744 SCV001653019 uncertain significance not specified 2020-08-13 criteria provided, single submitter clinical testing The p.Ser2155Ser variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.0008% (1/112900) of European chromosomes by gnomAD. This variant is a silent variant and is not located within the splice consensus sequence, but computational prediction tools suggest a possible creation of a 3' splice site. However, this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ser2155Ser variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.
Natera, Inc. RCV001832516 SCV002095042 uncertain significance Usher syndrome type 1 2020-02-26 no assertion criteria provided clinical testing

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