ClinVar Miner

Submissions for variant NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) (rs1188025733)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668909 SCV000793584 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074740 SCV001240335 pathogenic Retinal dystrophy 2019-05-16 criteria provided, single submitter clinical testing
Invitae RCV001202957 SCV001374093 pathogenic not provided 2020-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu284Aspfs*38) 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 several individuals affected with USH2A-related conditions (PMID: 15325563). ClinVar contains an entry for this variant (Variation ID: 553452). 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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