ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) (rs111033467)

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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 RCV000039300 SCV000062984 uncertain significance not specified 2011-04-27 criteria provided, single submitter clinical testing The Arg3001Gln in CDH23 has not been reported in the literature nor previously i dentified by our laboratory in any other families. Computational analyses (bioch emical amino acid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provi de strong support for or against pathogenicity. This variant has now been identi fied in this individual and her sibling, both of whom have sensorineural hearing loss. Although this finding is consistent with a causative role, because two si blings have a 50% chance of sharing any variant by chance, the clinical signific ance of this variant still cannot be determined at this time.

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