ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) (rs760838030)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191136 SCV000245545 likely pathogenic Aicardi Goutieres syndrome 1 2014-07-15 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant [V71fs] in an 18-year-old male with delayed development, neurologic regression, mineral deposition in the brain, adult-onset vision loss, inability to stand or walk, dystonia, abnormal teeth, maculopapular rash. This missense variant affects the same residue as another pathogenic variant reported in Aicardi-Goutieres syndrome (PMID 16845398, 18805785, 21270825, 21937424, 23881107). Father, who was heterozygous for this variant, had focal hand dystonia.
Fulgent Genetics,Fulgent Genetics RCV000763111 SCV000893653 likely pathogenic Aicardi Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Vasculopathy, retinal, with cerebral leukodystrophy 2018-10-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.