ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1449+1G>T

dbSNP: rs876657680
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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, Mass General Brigham Personalized Medicine RCV000215736 SCV000271344 pathogenic Rare genetic deafness 2016-01-28 criteria provided, single submitter clinical testing The c.1449+1G>T variant in CDH23 has not been previously identified in individua ls with hearing loss or Usher syndrome and is absent from large population studi es. This variant occurs in the invariant region (+/- 1,2) of the splice consens us sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the CDH23 gene is an established disease m echanism in autosomal recessive Usher syndrome type 1. In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an autos omal recessive manner based on the predicted impact of the variant.

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