Submissions for variant NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)

dbSNP: rs1571557864

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000986495	SCV001135507	pathogenic	Leber congenital amaurosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001869335	SCV002240805	pathogenic	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2021-08-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 801600). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 28819299). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1154*) 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).
Genome-Nilou Lab	RCV001250618	SCV004180161	pathogenic	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003455004	SCV004180162	pathogenic	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003455003	SCV004180163	pathogenic	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV001250618	SCV001425488	pathogenic	Leber congenital amaurosis 8		no assertion criteria provided	research