ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)

dbSNP: rs781051771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231973 SCV001404512 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-09-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 130 of the TREX1 protein (p.Asp130Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with systemic lupus erythematosus (PMID: 26150267, 33892200). ClinVar contains an entry for this variant (Variation ID: 816849). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
GeneDx RCV001759687 SCV001987737 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing Identified in an individual with systemic lupus erythematosus, however familial segregation data was not provided (Fredi et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26150267)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007852 SCV001167550 likely pathogenic Aicardi-Goutieres syndrome 1 no assertion criteria provided research

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