ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10388-2A>G (rs1553261479)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670401 SCV000795248 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073509 SCV001239054 pathogenic Retinal dystrophy 2019-04-24 criteria provided, single submitter clinical testing
Invitae RCV001212598 SCV001384186 pathogenic not provided 2019-09-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 52 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 28944237, Invitae). ClinVar contains an entry for this variant (Variation ID: 554721). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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