Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000431072 | SCV000114288 | uncertain significance | not provided | 2013-09-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000262094 | SCV000445035 | likely benign | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000300719 | SCV000445036 | likely benign | Aicardi Goutieres syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082325 | SCV000490863 | uncertain significance | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | The E266G variant has not been published in association with Aicardi-Goutieres syndrome. However, the E266G variant has been published in association with systemic lupus erythematosus (SLE) (Namjou et al., 2011; Lee-Kirsch et al., 2007). Namjou et al., reports identifying the E266G variant in 5 patients of African decent diagnosed with SLE but not in ethnically matched controls (Namjou et al., 2011). This variant was also identified identified in members of the cohort of European decent but also within ethnically matched controls (Namjou et al., 2011). The NHLBI Exome Sequencing Project reports E266G was observed in 33/8600 (0.38%) alleles from individuals of European background, and the 1000 Genomes Project Consortium reports E266G was observed in 1/978 (0.1%) alleles from individuals of South Asian background. The E266G 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 not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Center for Pediatric Genomic Medicine, |
RCV000431072 | SCV000510785 | uncertain significance | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Labcorp Genetics |
RCV001082165 | SCV000765744 | benign | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000431072 | SCV000844510 | uncertain significance | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000431072 | SCV002496827 | likely benign | not provided | 2025-03-01 | criteria provided, single submitter | clinical testing | TREX1: BP4, BS2 |
Center for Genomic Medicine, |
RCV000082325 | SCV004242526 | uncertain significance | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000082325 | SCV005883284 | uncertain significance | not specified | 2024-12-17 | criteria provided, single submitter | clinical testing | Variant summary: TREX1 c.797A>G (p.Glu266Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0017 in 251436 control chromosomes, predominantly at a frequency of 0.0029 within the Non-Finnish European subpopulation in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in TREX1 causing Aicardi-Goutieres Syndrome 1-AR (0.0017 vs 0.011), allowing no conclusion about variant significance. c.797A>G has been reported in the literature in two unspecified individuals without primary infomration (Dineiro_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Aicardi-Goutieres Syndrome 1-AR. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 32483926). ClinVar contains an entry for this variant (Variation ID: 96242). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Department of Pathology and Laboratory Medicine, |
RCV005394348 | SCV006053114 | likely benign | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2020-06-01 | criteria provided, single submitter | research | |
Genome Diagnostics Laboratory, |
RCV000082325 | SCV001927336 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000431072 | SCV002035847 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Institute of Neurology, |
RCV002281915 | SCV002571720 | likely benign | Aicardi-Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2022-06-04 | no assertion criteria provided | research | |
Prevention |
RCV004732658 | SCV005351960 | likely benign | TREX1-related disorder | 2024-08-09 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |