ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041750 SCV001205385 pathogenic Aicardi Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Chilblain Lupus 2019-07-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TREX1 gene (p.Ser82Leufs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 233 amino acids of the TREX1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another TREX1 variant in an individual affected with Aicardi-Gouti res syndrome (PMID: 24183309). This variant disrupts the C-terminus of the TREX1 protein. Other variant(s) that disrupt this region (p.Cys99Metfs*3, p.Val235Glyfs*6) have been determined to be pathogenic (PMID: 24183309, 25582466, 17660820, 27604306). 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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