ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10586-2A>G

gnomAD frequency: 0.00001  dbSNP: rs370327669
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665854 SCV000790042 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861747 SCV002233696 pathogenic not provided 2022-10-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 550947). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 21569298). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change affects an acceptor splice site in intron 53 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is present in population databases (rs370327669, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Genome-Nilou Lab RCV003446297 SCV004172016 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446296 SCV004172017 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446297 SCV004206431 likely pathogenic Retinitis pigmentosa 39 2022-03-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817871 SCV005069428 pathogenic Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing

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