ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala) (rs727502928)

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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 RCV000150311 SCV000197396 uncertain significance not specified 2014-06-10 criteria provided, single submitter clinical testing The Gly2238Ala variant in CDH23 has not been reported in individuals with hearin g loss or in large population studies. Computational prediction tools and conser vation analyses suggest that the Gly2238Ala variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. In addi tion, this variant is located within the splice consensus sequence. Computationa l tools do not agree on whether it impacts splicing. In summary, the clinical si gnificance of this variant cannot be determined with certainty.

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