Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000286602 | SCV000227426 | pathogenic | not provided | 2015-05-18 | criteria provided, single submitter | clinical testing | |
UCLA Clinical Genomics Center, |
RCV000005871 | SCV000255426 | likely pathogenic | Retinitis pigmentosa 37 | 2013-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000286602 | SCV000330651 | pathogenic | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | The G56R pathogenic variant in the NR2E3 gene has been reported previously in several families with autosomal dominant retinitis pigmentosa (adRP), with one study reporting this variant in 7/201 (3.5%) of families with adRP who were tested (Coppieters et al., 2007; Blanco-Kelly et al., 2016). This variant was not observed in approximately 6300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G56R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G56R as a pathogenic variant. |
Invitae | RCV000286602 | SCV001205035 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 56 of the NR2E3 protein (p.Gly56Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 17564971, 17982421, 19006237, 26910043). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5533). 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 NR2E3 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects NR2E3 function (PMID: 19006237, 19823680). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075751 | SCV001241381 | pathogenic | Retinal dystrophy | 2019-06-05 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000286602 | SCV001447300 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000005871 | SCV002526723 | pathogenic | Retinitis pigmentosa 37 | 2022-05-30 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PS1, PS4, PP1_STR, PS3_MOD, PM2_SUP |
OMIM | RCV000005871 | SCV000026053 | pathogenic | Retinitis pigmentosa 37 | 2007-07-01 | no assertion criteria provided | literature only | |
Department of Clinical Genetics, |
RCV000787628 | SCV000926613 | pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Clinical Genetics Laboratory, |
RCV000005871 | SCV002583439 | pathogenic | Retinitis pigmentosa 37 | 2022-05-02 | no assertion criteria provided | clinical testing |