ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9571-2A>G (rs751111524)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670550 SCV000795413 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV001057476 SCV001221972 pathogenic not provided 2019-10-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 48 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 (rs751111524, ExAC 0.01%). This variant has been observed in individuals affected with retinitis pigmentosa (PMID: 28041643, 28559085, 28981474). ClinVar contains an entry for this variant (Variation ID: 438033). 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 RCV001075684 SCV001241312 pathogenic Retinal dystrophy 2019-04-03 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505005 SCV000598842 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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