Submissions for variant NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)

dbSNP: rs62645754

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001857423	SCV002219537	pathogenic	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2022-08-23	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 99866). This missense change has been observed in individuals with Leber congenital amaurosis and retinitis pigmentosa (PMID: 11231775, 23449718, 25356976). This variant is present in population databases (rs62645754, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 383 of the CRB1 protein (p.Cys383Tyr).
Fulgent Genetics, Fulgent Genetics	RCV002498468	SCV002814172	likely pathogenic	Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001250593	SCV004178900	likely pathogenic	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453011	SCV004178901	likely pathogenic	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453010	SCV004178902	likely pathogenic	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001250593	SCV005058571	pathogenic	Leber congenital amaurosis 8	2023-11-08	criteria provided, single submitter	clinical testing
Retina International	RCV000086304	SCV000118450	not provided	not provided		no assertion provided	not provided
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001002989	SCV001161043	pathogenic	Leber congenital amaurosis	2019-06-23	no assertion criteria provided	research
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV001250593	SCV001425461	pathogenic	Leber congenital amaurosis 8		no assertion criteria provided	research