ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)

gnomAD frequency: 0.00076  dbSNP: rs111033450
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Total submissions: 8
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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 RCV000041885 SCV000065581 likely benign not specified 2011-09-04 criteria provided, single submitter clinical testing His2116Arg in exon 33 of USH2A: This variant has not been reported in the litera ture, but has been identified by our laboratory in one family. However, the abse nce of segregation with hearing loss in that family suggests that this variant i s more likely benign. In addition, this variant is not highly conserved across m ammals and has been identified in 0.1% of control chromosomes (rs111033450).
GeneDx RCV001238986 SCV000583059 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20507924)
Blueprint Genetics RCV001073913 SCV001239478 uncertain significance Retinal dystrophy 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001238986 SCV001411828 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001238986 SCV002544364 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing USH2A: BP4
PreventionGenetics, part of Exact Sciences RCV003904990 SCV004720218 likely benign USH2A-related condition 2020-01-28 criteria provided, single submitter 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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001238986 SCV001951775 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001238986 SCV001974320 uncertain significance not provided no assertion criteria provided clinical testing

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