ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7362+5G>A (rs727502931)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844693 SCV000197403 pathogenic Rare genetic deafness 2013-09-25 criteria provided, single submitter clinical testing The 7362+5G>A variant in CDH23 has been identified in three German individuals w ith Usher syndrome who were either homozygous or had a second variant in CDH23, and was not observed in at least 400 ethnically matched chromosomes (Bolz 2001, von Brederlow 2002, Glockle 2013). In addition, this variant is located in the c onserved 5' splice region, and functional analyses using RT-PCR reveal that the variant causes an in-frame skipping of exon 52 (Bolz 2001). In summary, this var iant meets our criteria to be classified as pathogenic ( g/LMM) based upon its presence in individuals with Usher syndrome and its observ ed impact on splicing.
OMIM RCV000005200 SCV000025377 pathogenic Usher syndrome type 1D 2001-01-01 no assertion criteria provided literature only

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