ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) (rs1301139848)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760647 SCV000890539 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing The E2667X variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E2667X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E2667X as a pathogenic variant.
Invitae RCV000760647 SCV001407006 pathogenic not provided 2019-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2667*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 620283). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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