Submissions for variant NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)

dbSNP: rs886043587

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000399049	SCV000340874	pathogenic	not provided	2016-04-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001245164	SCV001418434	pathogenic	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2019-04-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant has not been reported in the literature in individuals with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 287179). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala267Thrfs*35) in the CRB1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab	RCV003454807	SCV004178856	pathogenic	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454806	SCV004178857	pathogenic	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing