ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) (rs111033282)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel, RCV000041813 SCV000927009 benign not specified 2019-01-11 reviewed by expert panel curation The p.Ser841Tyr variant in the USH2A gene has been identified in three individuals with Usher syndrome (PMIDs 19683999, 28944237, 28653555); however, in two of those individuals a variant on the second allele was not identified (PMIDs 19683999, 28944237) and in one (PMID 28653555), the variant found on the other alleles (p.Tyr1992Cys) did not have evidence to support pathogenicity and has a high allele frequency in gnomAD (of European (Finnish) chromosomes). The filtering allele frequency of the p.Ser841Tyr variant in the USH2A gene is 1.4% for European (Finnish) chromosomes by gnomAD (1144/128242 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041813 SCV000065509 benign not specified 2010-07-13 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance due to an equal occur rence in probands and controls (Pennings 2004).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041813 SCV000225951 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000041813 SCV000258289 uncertain significance not specified 2015-02-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488324 SCV000574827 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041813 SCV000605549 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV000488324 SCV001033449 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504801 SCV000598801 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Center for Statistical Genetics, Columbia University RCV000754555 SCV000853293 uncertain significance Hearing impairment 2018-10-08 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787896 SCV000926914 uncertain significance Progressive cone dystrophy (without rod involvement) 2018-04-01 no assertion criteria provided research

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