ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)

dbSNP: rs747891004
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 RCV001228083 SCV001400468 pathogenic not provided 2024-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1557Serfs*17) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs747891004, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 955440). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001228083 SCV004238794 likely pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570563 SCV005055680 pathogenic Retinitis pigmentosa 39 2024-03-23 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.