ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) (rs111033409)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041862 SCV000065558 likely benign not specified 2014-10-20 criteria provided, single submitter clinical testing p.Arg1870Gln in exon 28 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, dolphin, killer whale, shrew, and manatee all have a glutamine (Gln) at t his position despite high nearby amino acid conservation. In addition, this vari ant has been identified in 3/8600 European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/) and 0.2% (3/1323) of E uropean chromosomes by the ClinSeq project (dbSNP rs111033409).
GeneDx RCV000041862 SCV000731021 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000670596 SCV000795468 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-08 criteria provided, single submitter clinical testing
Mendelics RCV000986534 SCV001135551 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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