ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)

gnomAD frequency: 0.00007  dbSNP: rs142302070
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152628 SCV000201944 uncertain significance not specified 2013-11-25 criteria provided, single submitter clinical testing The His1015Tyr variant in USH2A has not been previously reported in individuals with hearing loss, but has been identified in 0.05% (4/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u; dbSNP rs142302070). Computational tools (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong evidence for or against an impact to the protein. In summary, additional data is needed to de termine the clinical significance of this variant.
Invitae RCV001034259 SCV001197594 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001034259 SCV001788034 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477797 SCV000536820 uncertain significance Usher syndrome type 2A 2015-07-25 no assertion criteria provided research
Natera, Inc. RCV000477797 SCV001459764 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided 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.