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

gnomAD frequency: 0.00001  dbSNP: rs114342808

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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	2024-01-12	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. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant is present in population databases (rs114342808, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with CRB1-related conditions (PMID: 18682808, 23462753, 28512305). ClinVar contains an entry for this variant (Variation ID: 143167). 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
GeneDx	RCV000179572	SCV004025556	pathogenic	not provided	2023-08-07	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 23462753, 25324289, 32351147, 31054281, 20981092, 18682808, 32165824, 31456290, 33090715, 32901917, 33342761, 33946315, 34721897, 22344438, 25133751, 25445212, 28512305, 20956273, 23449718, 24715753, 29145603, 31630094)
Genome-Nilou Lab	RCV000132698	SCV004179943	pathogenic	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453099	SCV004179944	pathogenic	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453098	SCV004179945	pathogenic	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000132698	SCV004211111	pathogenic	Leber congenital amaurosis 8	2023-10-19	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV001073589	SCV004705074	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
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
Natera, Inc.	RCV001002990	SCV002090142	pathogenic	Leber congenital amaurosis	2020-08-17	no assertion criteria provided	clinical testing