ClinVar Miner

Submissions for variant NM_033629.5(TREX1):c.797A>G (p.Glu266Gly) (rs55999987)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000431072 SCV000844510 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431072 SCV000510785 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000431072 SCV000114288 uncertain significance not provided 2013-09-24 criteria provided, single submitter clinical testing
GeneDx 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.
Illumina Clinical Services Laboratory,Illumina RCV000262094 SCV000445035 likely benign Vasculopathy, retinal, with cerebral leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300719 SCV000445036 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000644055 SCV000765744 benign Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain lupus erythematosus 2018-01-08 criteria provided, single submitter clinical testing

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