ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) (rs201527662)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595137 SCV000703881 pathogenic not provided 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000595137 SCV000963084 likely pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 934 of the USH2A protein (p.Cys934Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is present in population databases (rs201527662, ExAC 0.3%). This variant has been observed in combination with another USH2A variant in individuals affected with retinal dystrophy and Usher syndrome (PMID: 25356976, 26338283, 27160483, 27460420, 29625443, 29899460), and has been shown to segregate with disease in several families (PMID: 21686329, 26310143). ClinVar contains an entry for this variant (Variation ID: 143179). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132710 SCV000172663 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000132710 SCV000598803 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Counsyl RCV000576637 SCV000678095 likely pathogenic Retinitis pigmentosa 39 2017-01-13 no assertion criteria provided clinical testing

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