ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.(?_7301)_(8223_?)del

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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 RCV000220563 SCV000271468 pathogenic Rare genetic deafness 2015-07-15 criteria provided, single submitter clinical testing The deletion encompassing exons 39 through 41 of USH2A has not been previously r eported in individuals with hearing loss or Usher syndrome. This variant is a de letion encompassing exons 39 through 41 that likely introduces a frameshift lead ing to a truncated or absent protein. In summary, this variant meets our criteri a to be classified as pathogenic for autosomal recessive Usher syndrome based on the likely impact to the protein.

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