ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) (rs547668692)

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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 RCV000216752 SCV000271553 uncertain significance not specified 2016-01-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val678Ile var iant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 12/65798 European chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs547668692). Computa tional prediction tools and conservation analyses suggest that the p.Val678Ile v ariant may not impact the protein, though this information is not predictive eno ugh to rule out pathogenicity. Of note, the valine (Val) at position 678 is not conserved with 1 mammal (shrew) and 10 lower species (birds, amphibians, reptil es, fish) having an isoleucine (Ile) at this position, supporting that a change at this position may be tolerated. In summary, while the clinical significance o f the p.Val678Ile variant is uncertain, these data suggest that it is more likel y to be benign.

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