ClinVar Miner

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

gnomAD frequency: 0.00187  dbSNP: rs149304901
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Total submissions: 14
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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 2023-01-01 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
Invitae 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

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