ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10388-2A>G

dbSNP: rs1553261479
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670401 SCV000795248 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-11-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073509 SCV001239054 pathogenic Retinal dystrophy 2019-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212598 SCV001384186 pathogenic not provided 2023-12-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 52 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 individuals with Usher syndrome (PMID: 28944237; Invitae). ClinVar contains an entry for this variant (Variation ID: 554721). 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.
Genome-Nilou Lab RCV003446314 SCV004172021 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830446 SCV004172023 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446314 SCV004200746 pathogenic Retinitis pigmentosa 39 2023-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670401 SCV005638554 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830446 SCV002088361 pathogenic Usher syndrome type 2A 2020-08-25 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.