ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)

dbSNP: rs1656419435
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199586 SCV001162757 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001074597 SCV001240188 likely pathogenic Retinal dystrophy 2019-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275180 SCV002562978 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282422 SCV002571067 pathogenic Usher syndrome 2022-07-30 criteria provided, single submitter clinical testing Variant summary: USH2A c.15063_15081delinsGC (p.Thr5022GlnfsX150) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251436 control chromosomes. c.15063_15081delinsGC has been reported in the literature as a compound heterozygous genotype in individuals affected with features of Usher Syndrome (example, Zein_2015, Weisschuh_2020, Wafa_2021). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV003455054 SCV004181836 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455053 SCV004181847 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455054 SCV004208357 pathogenic Retinitis pigmentosa 39 2023-08-03 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.