ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) (rs749123528)

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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 RCV000825298 SCV000966593 uncertain significance not specified 2018-10-09 criteria provided, single submitter clinical testing The p.Thr208Ile variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been reported in 0.03% (11/33536) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computationa l prediction tools and conservation analysis do not provide strong support for o r against an impact to the protein. This variant is located in the last three ba ses of the exon, which is part of the 5? splice region. Computational tools do n ot predict altered splicing, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Thr208Il e variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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