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

dbSNP: rs781051771

Total submissions: 3

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