ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11048-2A>G (rs200871041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668868 SCV000793541 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000821987 SCV000962764 pathogenic not provided 2020-08-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 56 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 (rs200871041, ExAC 0.002%). This variant has been observed in individuals affected with Usher syndrome or severe hearing loss (PMID: 28944237, 28984810, Invitae). ClinVar contains an entry for this variant (Variation ID: 553421). 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 RCV001074654 SCV001240246 likely pathogenic Retinal dystrophy 2019-02-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000821987 SCV001246249 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing

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