ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2168-2A>G

dbSNP: rs993185407
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672583 SCV000797698 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000672583 SCV000893289 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073756 SCV001239316 likely pathogenic Retinal dystrophy 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382734 SCV001581637 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Usher syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 556562). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV002272323 SCV002556783 likely pathogenic Retinitis pigmentosa 2021-08-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446327 SCV004172181 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001199965 SCV004172182 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446327 SCV004200754 likely pathogenic Retinitis pigmentosa 39 2024-02-19 criteria provided, single submitter clinical testing
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001199965 SCV001370762 pathogenic Usher syndrome type 2A 2019-12-10 no assertion criteria provided research

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