ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)

dbSNP: rs757478752
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036420 SCV001199782 likely pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2019-12-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TREX1 gene (p.Glu266*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acids of the TREX1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinal vasculitis (Invitae). In at least one individual the variant was observed to be de novo. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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