ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) (rs111033273)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413438 SCV000490868 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27957503, 10909849, 15043528, 16963483, 14676276, 27068579, 18273898, 31047448, 28944237, 28574513, 27318125, 26927203, 28559085, 22135276, 21738395, 21569298, 21151602, 15241801, 33576794)
Invitae RCV000413438 SCV001208805 pathogenic not provided 2020-05-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 536 of the USH2A protein (p.Cys536Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs111033273, ExAC 0.001%). This variant has been observed in individuals and families affected with Usher syndrome (PMID: 10909849, 28559085). ClinVar contains an entry for this variant (Variation ID: 48471). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074602 SCV001240193 pathogenic Retinal dystrophy 2019-01-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000413438 SCV001500879 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041794 SCV000065490 pathogenic Rare genetic deafness 2007-04-18 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678646 SCV000804736 pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787727 SCV000926727 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Counsyl RCV000984314 SCV001132497 pathogenic Usher syndrome, type 2A 2016-11-18 no assertion criteria provided clinical testing
Counsyl RCV000678646 SCV001132498 pathogenic Retinitis pigmentosa 39 2016-11-18 no assertion criteria provided clinical testing
Natera, Inc. RCV000984314 SCV001452257 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000413438 SCV001917856 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000413438 SCV001955038 pathogenic not provided no assertion criteria provided clinical testing

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