ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2633G>A (p.Arg878His)

gnomAD frequency: 0.00011  dbSNP: rs200124505
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Total submissions: 10
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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 RCV000152629 SCV000201946 benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Arg878His in Exon 13 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.4% (236/16510) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs200124505). In addition, the arginine (Arg) residue at position 87 8 is poorly conserved in several species, with many mammals having a histidine ( His) at this position.
Labcorp Genetics (formerly Invitae), Labcorp RCV000909410 SCV001054211 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Mendelics RCV000986543 SCV001135561 benign Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000986543 SCV001255335 benign Usher syndrome type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001098934 SCV001255336 benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000909410 SCV001892450 benign not provided 2020-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32581362, 25649381)
Genome-Nilou Lab RCV003453140 SCV004182416 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986543 SCV004182418 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000909410 SCV005280610 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000986543 SCV001459765 benign Usher syndrome type 2A 2019-12-17 no assertion criteria provided clinical testing

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