ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.23dup (p.Pro10fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225792 SCV001398084 pathogenic Aicardi Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Chilblain Lupus 2019-08-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TREX1 gene (p.Pro10Alafs*92). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 305 amino acids of the TREX1 protein. This variant is present in population databases (rs781731683, ExAC 0.002%). This variant has not been reported in the literature in individuals with TREX1-related conditions. This variant disrupts the C-terminus of the TREX1 protein. Other variant(s) that disrupt this region (p.Cys99Metfs*3) have been determined to be pathogenic (PMID: 24183309, 25582466). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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