ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)

dbSNP: rs1553274424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672102 SCV000797167 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231865 SCV001404401 pathogenic not provided 2019-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2523*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has been observed in an individual affected with retinitis pigmentosa (PMID: 26496393). ClinVar contains an entry for this variant (Variation ID: 556144).
Genome-Nilou Lab RCV003453343 SCV004183233 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453342 SCV004183234 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453343 SCV004206386 pathogenic Retinitis pigmentosa 39 2022-10-01 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.