ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) (rs751035557)

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
GeneDx RCV000658141 SCV000779912 likely pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing The C744Y variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The C744Y variant is observed in 1/9,826 (0.0102%) alleles from individuals of Ashkenazi Jewish background and 1/245,546 global alleles in large population cohorts (Lek et al., 2016). The C744Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret C744Y as a likely pathogenic variant.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199791 SCV001162731 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001074375 SCV001239953 likely pathogenic Retinal dystrophy 2019-07-30 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.