Submissions for variant NM_206933.4(USH2A):c.2052A>G (p.Gln684=)

gnomAD frequency: 0.00048  dbSNP: rs111033248

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041805	SCV000065501	benign	not specified	2016-06-08	criteria provided, single submitter	clinical testing	Gln684Gln in exon 12 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.7% (109/16500) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033248).
Eurofins Ntd Llc (ga)	RCV000041805	SCV000702334	likely benign	not specified	2016-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000888471	SCV001032107	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000986546	SCV001135565	benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000986546	SCV001253542	uncertain significance	Usher syndrome type 2A	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001097279	SCV001253543	uncertain significance	Retinitis pigmentosa	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000888471	SCV001500878	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Genome-Nilou Lab	RCV000986546	SCV001652753	likely benign	Usher syndrome type 2A	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000888471	SCV001895094	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029, 16963483, 10729113)
Ambry Genetics	RCV004018917	SCV004975807	likely benign	Inborn genetic diseases	2023-09-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV000986546	SCV001459772	benign	Usher syndrome type 2A	2020-05-03	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000888471	SCV001979255	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000888471	SCV001980086	uncertain significance	not provided		no assertion criteria provided	clinical testing