ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) (rs775889210)

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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 RCV000609610 SCV000712529 uncertain significance not specified 2016-11-08 criteria provided, single submitter clinical testing The p.Val620Ala variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 3/57332 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs775889210). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the first base of the exon, which is part of the 3? splic e region. Computational tools do not suggest an impact to splicing. However, thi s information is not predictive enough to rule out pathogenicity. Additional com putational prediction tools and conservation analysis suggest that the p.Val620A la variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.V al620Ala variant is uncertain.

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