Submissions for variant NM_206933.4(USH2A):c.2256T>C (p.His752=)

gnomAD frequency: 0.00103  dbSNP: rs111033281

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041810	SCV000065506	likely benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing	The His752His variant in USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and is commonly reported in cis with the pathogenic Cys759Phe variant (Rivolta 2002, Rivolta 2000, Aller 2004, Bernal 2005, Seyedahmadi 2004) . In addition, this variant has been identified in 0.2% (13/7020) of European Am erican chromosomes and 0.03% (1/3738) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/ EVS/; dbSNP rs111033281).
Eurofins Ntd Llc (ga)	RCV000041810	SCV000225953	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513238	SCV000608530	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513238	SCV001041691	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101007	SCV001257562	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001101008	SCV001257563	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000513238	SCV001472508	likely benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000513238	SCV001898644	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483036	SCV002800404	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2021-11-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450831	SCV004182447	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001101008	SCV004182448	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528234	SCV000317200	likely benign	USH2A-related disorder	2020-05-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV001101008	SCV001459770	likely benign	Usher syndrome type 2A	2020-01-12	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000513238	SCV001924082	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000513238	SCV001954227	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000513238	SCV001975322	likely benign	not provided		no assertion criteria provided	clinical testing