ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) (rs114342808)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132698 SCV000172651 pathogenic Leber congenital amaurosis 8 no assertion criteria provided not provided Converted during submission to Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179572 SCV000231837 pathogenic not provided 2014-11-07 criteria provided, single submitter clinical testing
Invitae RCV000792250 SCV000931531 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2018-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg526*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs114342808, ExAC 0.03%). This variant has been observed in several individuals affected with CRB1-related conditions (PMID: 23462753, 28512305, 18682808). ClinVar contains an entry for this variant (Variation ID: 143167). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000132698 SCV000189601 pathogenic Leber congenital amaurosis 8 2014-09-18 no assertion criteria provided clinical testing

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