ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) (rs750396156)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000498898 SCV000332810 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000498898 SCV000589528 pathogenic not provided 2018-11-05 criteria provided, single submitter clinical testing The R4192C variant in the USH2A gene has been reported previously in association with autosomal recessive Usher syndrome type 2 and in association with autosomal recessive retinitis pigmentosa when present in the homozygous state or when in trans with another disease-causing USH2A variant (Corton et al., 2013; Coppieters et al., 2014; Bonnet et al., 2016; Carss et al., 2017; Perez-Carro et al., 2018). The R4192C variant is observed in 9/125,058 (0.0072%) alleles from individuals of non-Finnish Eurpean background in large population cohorts (Lek et al., 2016). The R4192C 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 R4192C as a pathogenic variant.
Counsyl RCV000675149 SCV000800749 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-15 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504963 SCV000598776 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000678644 SCV000804733 likely pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504963 SCV000926913 likely pathogenic Retinitis pigmentosa 2018-04-01 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.