ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2541C>A (p.Cys847Ter) (rs727503736)

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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 RCV000152630 SCV000201948 pathogenic Rare genetic deafness 2013-12-05 criteria provided, single submitter clinical testing The Cys847X variant in USH2A has been reported in two African American individua ls with type 2 Usher syndrome, both of whom were compound heterozygous with anot her pathogenic USH2A variant (Weston 2000 and LMM unpublished data). This nonse nse variant leads to a premature termination codon at position 847, which is pre dicted 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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