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

gnomAD frequency: 0.00011  dbSNP: rs200124505

Total submissions: 9

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.
Invitae	RCV000909410	SCV001054211	benign	not provided	2024-01-31	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
Natera, Inc.	RCV000986543	SCV001459765	benign	Usher syndrome type 2A	2019-12-17	no assertion criteria provided	clinical testing