ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) (rs111033418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664676 SCV000788677 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000522247 SCV000617258 pathogenic not provided 2017-11-07 criteria provided, single submitter clinical testing The Q3587X nonsense variant has been reported previously in association with Usher syndrome (Garcia-Garcia et al., 2011; Neuhaus et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q3587X as a pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041678 SCV000065374 likely pathogenic Rare genetic deafness 2009-05-12 criteria provided, single submitter clinical testing

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