ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.142_144del (p.Pro48del)

dbSNP: rs748914604
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Total submissions: 1
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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.

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