Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
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. |