ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) (rs876657760)

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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 RCV000220231 SCV000271574 uncertain significance not specified 2015-06-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Lys3095Glu va riant in CDH23 has not been previously reported in individuals with hearing loss and data from large population studies is insufficient to assess the frequency of this variant in the general population. Lysine (Lys) at position 3095 is not well conserved in evolutionarily distant species, with 5 fish species having a g lutamic acid (Glu) at this position. Additional computational prediction tools d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Lys3095Glu variant is uncertain, the conser vation data suggests that it is more likely to be benign.

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