ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6134A>G (p.His2045Arg) (rs111033514)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664994 SCV000789044 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726921 SCV000704178 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041879 SCV000065575 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing p.His2045Arg in exon 31 of USH2A: This variant is not expected to have clinical significance because the histidine (His) at position 2045 is not conserved throu gh species, with 4 mammals (naked mole rat, David's myotis (bat), microbat, big brown bat) having an arginine (Arg) at this position. The variant has been repo rted in 16/126668 European chromosomes by the gnomAD population database (http:/ /gnomad.broadinstitute.org; dbSNP rs111033514).

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