ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.621_622del (p.Ile207fs)

dbSNP: rs781199890
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
Centogene AG - the Rare Disease Company RCV001809208 SCV002059676 likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-09-24 criteria provided, single submitter clinical testing
Invitae RCV001869598 SCV002304986 pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TREX1 protein in which other variant(s) (p.W210*) have been determined to be pathogenic (PMID: 26938784; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1333993). This premature translational stop signal has been observed in individual(s) with autosomal recessive Aicardi-Goutieres syndrome (Invitae). This variant is present in population databases (rs781199890, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Ile207Metfs*33) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the TREX1 protein.

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.