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

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
Blueprint Genetics	RCV001073589	SCV001239140	pathogenic	Retinal dystrophy	2019-07-06	criteria provided, single submitter	clinical testing
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.
Molecular Diagnostics Laboratory,Seoul National University Hospital	RCV000132698	SCV000189601	pathogenic	Leber congenital amaurosis 8	2014-09-18	no assertion criteria provided	clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center	RCV001002990	SCV001161044	pathogenic	Leber congenital amaurosis	2019-06-23	no assertion criteria provided	research