ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) (rs751411512)

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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 RCV000216826 SCV000271470 pathogenic Rare genetic deafness 2015-06-16 criteria provided, single submitter clinical testing The p.Glu4571X variant in USH2A has not been previously reported in individuals with hearing loss Usher syndrome, and it was absent from large population studie s. This nonsense variant leads to a premature termination codon at position 4571 , which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner.

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