ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9056-2A>G (rs754970095)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091128 SCV001246993 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001091128 SCV001410671 pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 45 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 (rs754970095, ExAC 0.003%). This variant has been observed in an individual affected with USH2A-related conditions (PMID: 25649381). ClinVar contains an entry for this variant (Variation ID: 636128). 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.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787742 SCV000926746 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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