ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) (rs727504867)

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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 RCV000156228 SCV000205944 pathogenic Rare genetic deafness 2013-12-12 criteria provided, single submitter clinical testing The Gln4750X variant in USH2A has not been previously reported in individuals wi th hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 4750, which is predicted to lead to a t runcated or absent protein. In summary, this variant meets our criteria to be cl assified as pathogenic (

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