ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15520-1G>A (rs767265734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000281832 SCV000341467 likely pathogenic not provided 2016-05-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000281832 SCV001147657 likely pathogenic not provided 2017-10-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000794 SCV001157853 uncertain significance not specified 2018-09-27 criteria provided, single submitter clinical testing The USH2A c.15520-1G>A variant (rs767265734), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the ClinVar database (Variation ID: 287641) and in the general population with an overall allele frequency of 0.002% (6/246016 alleles) in the Genome Aggregation Database. This is an intronic variant in a conserved acceptor site and computational algorithms predict this variant abolishes the acceptor site (Alamut v.2.11). However, this is the acceptor site in the terminal exon and the effect of such a splicing variant is uncertain. At least two variants that introduce premature termination codons in the terminal exon are present in ClinVar as uncertain (see link below). Additionally, ARUP Laboratories has detected this variant in an individual with an alternative molecular explanation for disease. Considering available information, the clinical significance of this variant is uncertain. Pathogenic USH2A variants are causative for autosomal recessive retinitis pigmentosa (MIM: 613809) and Usher syndrome (MIM: 276901). References: Link to USH2a in ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/?term=USH2A%5Bgene%5D

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