ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)

dbSNP: rs74556809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063407 SCV001228250 likely pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-08-12 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant affects TREX1 function (PMID: 17293595, 21937424). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 4181). This variant is also known as D201ins and 600_601insGAT. This variant has been observed in individual(s) with autosomal recessive Aicardi-Goutieres syndrome (PMID: 16845398). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs755094515, gnomAD 0.007%). This variant, c.599_601dup, results in the insertion of 1 amino acid(s) of the TREX1 protein (p.Asp200dup), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001794431 SCV002032378 likely pathogenic not provided 2021-12-29 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant is associated with reduced enzyme activity (de Silva et al., 2007; Orebaugh et al., 2011); In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 17293595, 21937424, 26182405, 16845398, 20301648)
OMIM RCV000004399 SCV000024571 pathogenic Aicardi-Goutieres syndrome 1 2006-08-01 no assertion criteria provided literature only
GeneReviews RCV000004399 SCV000147899 not provided Aicardi-Goutieres syndrome 1 no assertion provided literature only

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