ClinVar Miner

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

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Total submissions: 13
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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 pathogenic not provided 2019-12-30 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, 30948794), and has been shown to segregate with disease in several families (PMID: 21686329, 26310143). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant (PMID: 30948794). 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. For these reasons, this allele has been classified as Pathogenic.
Mendelics RCV000986542 SCV001135560 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000986542 SCV001162880 pathogenic Usher syndrome, type 2A criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000986542 SCV001193894 likely pathogenic Usher syndrome, type 2A 2019-12-20 criteria provided, single submitter clinical testing NM_206933.2(USH2A):c.2802T>G(C934W) is classified as likely pathogenic in the context of USH2A-related disorders. Sources cited for classification include the following: PMID 24938718, 25324289, 26310143, 27460420 and 26338283. Classification of NM_206933.2(USH2A):c.2802T>G(C934W) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Blueprint Genetics RCV001074347 SCV001239922 pathogenic Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000595137 SCV001248856 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986542 SCV001255332 uncertain significance Usher syndrome, type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000132710 SCV001255333 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
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
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003277 SCV001161360 likely pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research

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