ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1134+53C>A (rs572222393)

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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 RCV000609800 SCV000731980 uncertain significance not specified 2017-10-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro396Gln var iant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.12% (25/21048) of African chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs572222393). Although this variant has been seen in the general popul ation, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analyses suggest that this variant may no t impact the protein, though this information is not predictive enough to rule o ut pathogenicity. In summary, while the clinical significance of the p.Pro396Gln variant is uncertain, these data suggest that it is more likely to be benign. A CMG/AMP Criteria applied: BP4 (Richards 2015).

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