ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.4396+6857_6486-425del

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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 RCV000591738 SCV000709747 pathogenic Usher syndrome 2018-03-07 criteria provided, single submitter clinical testing The deletion encompassing exons 21-33 of USH2A has been identified by our laboratory in 1 child with hearing loss who carried a second, pathogenic variant in the same gene. It was absent from large population studies. This deletion is predicted to cause a frameshift, resulting in a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome.

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