ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.621_622del (p.Ile207fs)

dbSNP: rs781199890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809208 SCV002059676 likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869598 SCV002304986 pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TREX1 protein in which other variant(s) (p.W210*) have been determined to be pathogenic (PMID: 26938784; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1333993). This premature translational stop signal has been observed in individual(s) with autosomal recessive Aicardi-Goutieres syndrome (Invitae). This variant is present in population databases (rs781199890, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Ile207Metfs*33) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the TREX1 protein.

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