ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10564A>G (p.Arg3522Gly) (rs147374057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217733 SCV000272884 uncertain significance not specified 2016-01-15 criteria provided, single submitter clinical testing The p.Arg3522Gly variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified 11/66536 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs147374057). Although this variant has been seen in the general p opulation, its frequency is not high enough to rule out a pathogenic role. Compu tational prediction tools and conservation analyses suggest that the p.Arg3522Gl y variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of t he p.Arg3522Gly variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000763829 SCV000894747 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing

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