Submissions for variant NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

gnomAD frequency: 0.00216  dbSNP: rs34596189

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152625	SCV000201938	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Gly1132Asp in Exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs34596189).
Eurofins Ntd Llc (ga)	RCV000152625	SCV000854892	likely benign	not specified	2017-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894588	SCV001038583	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100644	SCV001257173	uncertain significance	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). 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.
Illumina Laboratory Services, Illumina	RCV001100645	SCV001257174	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.
GeneDx	RCV000894588	SCV001898957	likely benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28704108, 30245029, 28041643, 26969326, 21738395, 25097241, 25262649)
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504687	SCV000598806	uncertain significance	Usher syndrome	2015-01-01	no assertion criteria provided	research
Natera, Inc.	RCV001100645	SCV001459760	likely benign	Usher syndrome type 2A	2020-05-03	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000894588	SCV001952477	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000894588	SCV001972161	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544387	SCV004772842	likely benign	USH2A-related disorder	2020-01-30	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).