ClinVar Miner

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

gnomAD frequency: 0.00034  dbSNP: rs111033409
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 RCV001512374 SCV000731021 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25412400)
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
Invitae RCV001512374 SCV001719782 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450854 SCV004181786 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986534 SCV004181787 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986534 SCV001455633 likely benign Usher syndrome type 2A 2019-12-14 no assertion criteria provided clinical testing

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