ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) (rs527236139)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413588 SCV000490871 pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing The R3719H missense variant in the USH2A gene has been reported previously in association with non-syndromic retinitis pigmentosa (Lenassi et al., 2015; Chen et al., 2014). The R3719H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret R3719H as a pathogenic variant.
Counsyl RCV000665160 SCV000789229 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074730 SCV001240323 pathogenic Retinal dystrophy 2019-05-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000413588 SCV001246248 pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV000413588 SCV001395429 pathogenic not provided 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3719 of the USH2A protein (p.Arg3719His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs527236139, ExAC 0.03%). This variant has been observed to segregate with USH2A-related disease in several families (PMID: 25133613, 30190494, 28157192, 29641573, 30280194). ClinVar contains an entry for this variant (Variation ID: 143170). 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 variant has been classified as Pathogenic.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132701 SCV000172654 probable-pathogenic Usher syndrome, type 2A no assertion criteria provided not provided Converted during submission to Likely pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504711 SCV000598766 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000678643 SCV000804731 uncertain significance Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504711 SCV000926712 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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