ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) (rs758660532)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760346 SCV000890206 pathogenic not provided 2018-09-12 criteria provided, single submitter clinical testing The S5030X nonsense variant has been published previously in association with Usher syndrome (Baux et al., 2007). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). S5030X is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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