ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) (rs79318303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805420 SCV000945376 pathogenic Aicardi Goutieres syndrome 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Chilblain Lupus 2019-11-27 criteria provided, single submitter clinical testing This variant, c.868_885delCCACTGGGTCTGCTGGCC, results in the deletion of 6 amino acid(s) of the TREX1 protein (p.Pro290_Ala295del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed on the opposite chromosome (in trans) from a likely pathogenic variant in an individual affected with Aicardi Goutieres syndrome (PMID: 25582466). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has also been observed in other individuals and a family affected with Aicardi Goutieres syndrome (PMID: 25582466, 24300241, 20131292, 28750028). This variant is also known as c.859_876del18; p.Leu287_Gly292del in the literature. ClinVar contains an entry for this variant (Variation ID: 126393). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000114334 SCV000147903 pathogenic Aicardi Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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