ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7301-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1438496892
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226427 SCV001398740 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 38 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individuals with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 954043). 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.
Baylor Genetics RCV003462775 SCV004206290 pathogenic Retinitis pigmentosa 39 2023-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833957 SCV002090860 likely pathogenic Usher syndrome type 2A 2020-12-30 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.