ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter)

dbSNP: rs2528045584
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
Institute of Human Genetics, University Hospital Muenster RCV004584488 SCV002577764 pathogenic See cases 2021-12-04 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003097723 SCV003275649 pathogenic not provided 2022-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1244*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003454076 SCV004182308 pathogenic Retinitis pigmentosa 39 2023-11-04 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.