ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1841-1G>A

dbSNP: rs2102606531
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001387464 SCV001588081 pathogenic not provided 2022-01-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 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 USH2A-related conditions (PMID: 12525556). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1074239). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 20497194). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469733 SCV004208349 likely pathogenic Retinitis pigmentosa 39 2023-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014539 SCV005641142 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-05-10 criteria provided, single submitter 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.