ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) (rs143696882)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213372 SCV000272886 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala4049Thr va riant in USH2A has not been previously reported in individuals with hearing loss , but has been identified in 0.2% (17/10368) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs143696882 ). Computational prediction tools and conservation analysis do not provide stron g support for or against an impact to the protein. In summary, the clinical sign ificance of this variant cannot be determined with certainty; however, the frequ ency data suggest that it is more likely to be benign.
Counsyl RCV000669630 SCV000794403 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-09-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074362 SCV001239938 uncertain significance Retinal dystrophy 2019-07-23 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504751 SCV000598772 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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.