ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.425G>A (p.Arg142His)

dbSNP: rs1554074684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624896 SCV000741045 pathogenic Inborn genetic diseases 2015-09-18 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677703 SCV000803853 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2017-08-04 criteria provided, single submitter clinical testing
GeneDx RCV002285376 SCV002575652 pathogenic not provided 2022-03-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26986877, 32484994)

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