Submissions for variant NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)

dbSNP: rs115352681

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000322587	SCV000338382	pathogenic	not provided	2016-01-20	criteria provided, single submitter	clinical testing
Invitae	RCV001202291	SCV001373399	pathogenic	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2022-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys394*) 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 (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 285386). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000322587	SCV001905545	pathogenic	not provided	2021-09-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454793	SCV004178903	pathogenic	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454792	SCV004178904	pathogenic	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003454793	SCV004211238	pathogenic	Leber congenital amaurosis 8	2022-08-27	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787574	SCV000926554	likely pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research