ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) (rs727504893)

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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 RCV000156272 SCV000205989 pathogenic Rare genetic deafness 2013-12-23 criteria provided, single submitter clinical testing The Trp211X variant in USH2A has not been previously reported in individuals wit h hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 211, which is predicted to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic (

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