ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) (rs483353056)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory; Baylor College of Medicine RCV000119825 SCV000154751 probable-pathogenic Usher syndrome, type 2A criteria provided, single submitter not provided Converted during submission to Likely pathogenic.
GeneDx RCV000444053 SCV000515833 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing The S2492X nonsense variant in the USH2A gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. S2492X was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously to our knowledge, we consider it to be pathogenic.

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