ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)

dbSNP: rs78846775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512754 SCV003525218 pathogenic Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects TREX1 function (PMID: 18805785). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 4184). This missense change has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 17357087, 20131292). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 200 of the TREX1 protein (p.Asp200Asn).
OMIM RCV000004402 SCV000024574 pathogenic Aicardi Goutieres syndrome 1, autosomal dominant 2011-09-16 no assertion criteria provided literature only
GeneReviews RCV000114331 SCV000147898 pathogenic Aicardi-Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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