ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2256T>C (p.His752=) (rs111033281)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041810 SCV000225953 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041810 SCV000317200 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513238 SCV000608530 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV000513238 SCV001041691 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,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.

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