ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9159T>G (p.Tyr3053Ter) (rs397518042)

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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 RCV000041939 SCV000065635 pathogenic Rare genetic deafness 2012-03-12 criteria provided, single submitter clinical testing The Tyr3053X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. This nonsense variant leads to a premature te rmination codon at position 3053, which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets our criteria to be classified as p athogenic (http://pcpgm.partners.org/LMM).

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