Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
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 | 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). This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 4184). 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"). Experimental studies have shown that this missense change affects TREX1 function (PMID: 18805785). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000114331 | SCV000147898 | pathogenic | Aicardi-Goutieres syndrome 1 | 2014-03-13 | no assertion criteria provided | literature only | |
| OMIM | RCV000004402 | SCV000024574 | pathogenic | Aicardi-Goutieres syndrome 1, autosomal dominant | 2011-09-16 | no assertion criteria provided | literature only |