ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1558del (p.Cys520fs) (rs878853410)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671733 SCV000796743 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV001058681 SCV001223268 pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys520Alafs*71) 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 individual(s) with Usher syndrome (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236541). 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.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225369 SCV000282652 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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