Submissions for variant NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)

gnomAD frequency: 0.00001  dbSNP: rs1452822430

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000761689	SCV000891868	uncertain significance	not provided	2018-09-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001855706	SCV002267375	uncertain significance	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2021-09-17	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with asparagine at codon 238 of the CRB1 protein (p.Thr238Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 623711). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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	RCV003453578	SCV004178849	uncertain significance	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453579	SCV004178850	uncertain significance	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453577	SCV004178852	uncertain significance	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing