ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) (rs1553250952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666765 SCV000791115 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000760349 SCV000890209 pathogenic not provided 2018-06-11 criteria provided, single submitter clinical testing The Y276X variant in the USH2A gene has been reported previously in an individual with retinitis pigmentosa who harbored an additional variant in the USH2A gene in trans (Glockle et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y276X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y276X as a pathogenic variant.

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