ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) (rs1064793745)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674309 SCV000799624 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000485380 SCV000566920 pathogenic not provided 2015-07-06 criteria provided, single submitter clinical testing The W1169X nonsense variant in the USH2A gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this variant has not beenreported previously to our knowledge, we interpret it as pathogenic.

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