ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)

dbSNP: rs74689946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781439 SCV002022420 pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764807 SCV004569773 likely pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala72Trpfs*17) in the TREX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 243 amino acid(s) of the TREX1 protein. This variant is present in population databases (rs775500897, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 17846997). This variant disrupts the C-terminus of the TREX1 protein. Other variant(s) that disrupt this region (p.I156Tfs*4, p.T157Mfs*3, p.Trp210*) have been observed in individuals with TREX1-related conditions (PMID: 16845398, 24183309, 25604658, 26938784). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000114323 SCV000147888 not provided Aicardi-Goutieres syndrome 1 no assertion provided literature only

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