ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5572+1G>A (rs775293551)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664714 SCV000788719 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV000815036 SCV000955477 pathogenic not provided 2019-12-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 27 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs775293551, ExAC 0.01%). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 25649381, 24938718, Invitae). This variant is also known as 5776+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 550083). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 25649381). 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.
Blueprint Genetics RCV001073564 SCV001239115 likely pathogenic Retinal dystrophy 2019-06-17 criteria provided, single submitter clinical testing

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