ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)

dbSNP: rs78948846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005089573 SCV005848232 likely pathogenic not provided 2024-08-14 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 105 amino acids are replaced with 31 different amino acids, and other similar variants have been reported in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20301648, 33235754, 38003924, 27943079, 17846997)
Labcorp Genetics (formerly Invitae), Labcorp RCV005222754 SCV005863055 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2024-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp210Serfs*32) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 105 amino acid(s) of the TREX1 protein. This variant is present in population databases (rs753237990, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 17846997, 27943079). ClinVar contains an entry for this variant (Variation ID: 126392). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneReviews RCV000114333 SCV000147902 not provided Aicardi-Goutieres syndrome 1 no assertion provided literature only

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