ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675149 SCV000800749 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-15 criteria provided, single submitter clinical testing
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.
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504963 SCV000598776 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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