Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043538 | SCV001207289 | uncertain significance | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2019-03-05 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with TREX1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.142_144del, results in the deletion of 1 amino acid of the TREX1 protein (p.Pro48del), but otherwise preserves the integrity of the reading frame. |