ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1992dup (p.Lys665Ter) (rs730880349)

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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 RCV000155748 SCV000205459 pathogenic Rare genetic deafness 2013-05-31 criteria provided, single submitter clinical testing The Lys665X variant in USH2A has not been identified in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 665, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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