ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg)

gnomAD frequency: 0.00005  dbSNP: rs201864716
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Total submissions: 5
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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 RCV000221146 SCV000271158 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing p.Gln4592Arg in exon 63 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, over 10 mammals have a Arginine (R) at this position. Additionally, It ha s been identified in 0.14% (16/11566) of Latino chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs201864716).
Invitae RCV001034424 SCV001197774 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001034424 SCV001982654 likely benign not provided 2021-10-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003454576 SCV004183131 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454575 SCV004183132 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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