ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) (rs398124619)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000760348 SCV000331481 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000675016 SCV000800443 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000760348 SCV000890208 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing The E2288X variant in the USH2A gene has been reported previously in association with autosomal recessive Usher syndrome type II (Yan et al., 20009; Steel-Stallard et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E2288X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E2288X as a pathogenic variant.

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