ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) (rs141986620)

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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 RCV000601446 SCV000710871 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing The p.Arg2489His variant in CDH23 has been reported in 1 individual with atypica l Usher syndrome who also had a second pathogenic variant in CDH23 and a possibl e viral etiology (Zhao 2015). It has also been reported in the heterozygous stat e in 2 individuals with hearing loss (Wagatsuma 2007, Mizutari 2015). The p.Arg2 489His variant has been identified in 4/111634 European chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141986 620). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. Computational prediction to ols and conservation analysis suggest that the p.Arg2489His variant may impact t he protein, though this information is not predictive enough to determine pathog enicity. In summary, the clinical significance of the p.Arg2489His variant is un certain.

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