ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn) (rs1589421960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825303 SCV000966598 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing The p.Asp1941Asn (c.5821G>A) variant in CDH23 has not been previously reported i n individuals with hearing loss or Usher syndrome and was absent from large popu lation studies. Computational prediction tools and conservation analysis suggest that the p.Asp1941Asn variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. This variant impacts the fir st base of the exon, which is part of the splice consensus sequence. However, sp lice prediction tools do not suggest an impact to splicing. In summary, the clin ical significance of the p.Asp1941Asn variant is uncertain. ACMG/AMP criteria ap plied: PM2, PP3.

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