Submissions for variant NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)

gnomAD frequency: 0.00187  dbSNP: rs149304901

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041821	SCV000065517	likely benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing	p.His1041Gln in exon 15 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.2% (135/66210) of European chro mosomes and in 0.2% (37/16414) of South Asian chromosomes including 2 homozygote s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs149304901). It has been reported in 1 Northern Irish individual with retin itis pigmentosa and in 0.3% (2/720) control chromosomes (Simpson 2011).
CeGaT Center for Human Genetics Tuebingen	RCV000487811	SCV000574825	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS2
Eurofins Ntd Llc (ga)	RCV000487811	SCV000705832	uncertain significance	not provided	2017-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000487811	SCV001110385	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097184	SCV001253440	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). 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	RCV001097185	SCV001253441	uncertain significance	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. 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.
Pars Genome Lab	RCV001097185	SCV001652830	uncertain significance	Usher syndrome type 2A	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001097185	SCV001806182	uncertain significance	Usher syndrome type 2A	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578841	SCV001806183	uncertain significance	Retinitis pigmentosa 39	2021-07-22	criteria provided, single submitter	clinical testing
DBGen Ocular Genomics	RCV001578841	SCV001816023	uncertain significance	Retinitis pigmentosa 39	2021-06-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000487811	SCV001872967	uncertain significance	not provided	2021-04-30	criteria provided, single submitter	clinical testing	Reported in patients with an USH2A related disorder, however variants in other causative genes were also identified (Bujakowska et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25468891, 21147909)
Clinical Genetics, Academic Medical Center	RCV000487811	SCV001918171	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000487811	SCV001959013	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487811	SCV001967183	likely benign	not provided		no assertion criteria provided	clinical testing