ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.294dup (p.Cys99fs)

dbSNP: rs760594164
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490271 SCV000267538 pathogenic Aicardi-Goutieres syndrome 1 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV000375716 SCV000445020 likely benign TREX1-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806372 SCV000946366 pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys99Metfs*3) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 216 amino acid(s) of the TREX1 protein. This variant is present in population databases (rs760594164, gnomAD 0.1%). This premature translational stop signal has been observed in individuals with autosomal recessive Aicardi Goutières syndrome (PMID: 23602593, 24183309, 25582466). It has also been observed to segregate with disease in related individuals. This variant is also known as c.294dup and c.294_295insA. ClinVar contains an entry for this variant (Variation ID: 225499). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001008124 SCV001167880 pathogenic not provided 2023-09-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 216 amino acids are replaced with 2 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 26747767, 24183309, 23602593, 26144021, 29210089, 30199759, 31475890, 33407657, 32712949, 32524323, 25582466, 33996686, 27943079, 35551623, 35345580)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000490271 SCV005417034 pathogenic Aicardi-Goutieres syndrome 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PM3_Strong+PP4

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