ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) (rs397518041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041937 SCV000065633 pathogenic Rare genetic deafness 2010-04-02 criteria provided, single submitter clinical testing The Trp2994X variant in USH2A has been reported in 2 probands with Usher syndrom e (Yan 2009). In addition, this variant leads to a premature stop codon at posit ion 2994 and therefore, is predicted to lead to a truncated or absent protein. I n summary, this variant meets our criteria to be classified as pathogenic (http: //
Counsyl RCV000666550 SCV000790858 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000760327 SCV000890183 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing The W2994X nonsense variant in the USH2A gene has been reported previously two patients with Usher syndrome type II; in one patient, no second variant in the USH2A gene was identified (Yan et al., 2009). The W2994X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We classify this variant as pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504790 SCV000598838 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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