ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.296_299dup (p.Phe100fs)

dbSNP: rs763966000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944393 SCV002210947 pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TREX1-related conditions. This sequence change creates a premature translational stop signal (p.Phe100Leufs*3) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 215 amino acid(s) of the TREX1 protein. This variant is present in population databases (rs763966000, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 1433355). This variant disrupts a region of the TREX1 protein in which other variant(s) (p.Arg164*) have been determined to be pathogenic (PMID: 16845398, 25604658). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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