ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter)

dbSNP: rs727504608
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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, Mass General Brigham Personalized Medicine RCV000155859 SCV000205570 pathogenic Rare genetic deafness 2013-06-11 criteria provided, single submitter clinical testing The Tyr3715X variant in USH2A has not been reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 3715, 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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