ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) (rs200263980)

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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 RCV000154333 SCV000203996 uncertain significance not specified 2013-07-23 criteria provided, single submitter clinical testing The Arg582Gln variant in CDH23 has been reported in 1 Dutch individual with nons yndromic hearing loss; however, a second CDH23 variant was not identified in thi s individual (Astuto 2002). This variant has been identified in 0.02% (2/8324) o f European American chromosomes by the NHLBI Exome Sequencing Project (http://ev; dbSNP rs200263980). Although this variant has been se en in the general population, its frequency is not high enough to rule out a pat hogenic role. Computational analyses (biochemical amino acid properties, conserv ation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agai nst an impact to the protein. In summary, additional information is needed to fu lly assess the clinical significance of the Arg582Gln variant.

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