ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) (rs201876362)

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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 RCV000039228 SCV000062912 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Leu1944Ser variant in CDH23 has been reported in 1 individual with profoun d sensorineural hearing loss who was heterozygous for two pathogenic variants in another gene that likely explained the hearing loss (LMM data). This variant ha s been identified in 0.1% (9/9754) of African chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs201876362). Althoug h this variant has been seen in the general population, its frequency is not hig h enough to rule out a pathogenic role. Computational prediction tools and conse rvation analyses do not provide strong support for or against an impact to the p rotein. In summary, the clinical significance of the p.Leu1944Ser variant is unc ertain

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