Submissions for variant NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)

dbSNP: rs1665279435

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001073406	SCV001238947	uncertain significance	Retinal dystrophy	2019-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001862803	SCV002187458	uncertain significance	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2021-08-11	criteria provided, single submitter	clinical testing	Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function. This sequence change replaces cysteine with tyrosine at codon 1283 of the CRB1 protein (p.Cys1283Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Leber congenital amaurosis (Invitae). ClinVar contains an entry for this variant (Variation ID: 865861). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV003455317	SCV004180193	uncertain significance	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003455318	SCV004180194	uncertain significance	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003455316	SCV004180195	uncertain significance	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing