ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.473C>T (p.Ala158Val)

gnomAD frequency: 0.00004  dbSNP: rs762011967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148457 SCV001309356 uncertain significance Aicardi-Goutieres syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001148458 SCV001309357 likely benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001246935 SCV001420328 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 158 of the TREX1 protein (p.Ala158Val). This variant is present in population databases (rs762011967, gnomAD 0.009%). This missense change has been observed in individual(s) with sytemic lupus erythematosus (PMID: 17660818). ClinVar contains an entry for this variant (Variation ID: 902141). 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"). 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 RCV001759906 SCV001986210 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing Reported in a European female with systemic lupus erythematosus in published literature (Lee-Kirsch et al., 2007); however, no family history or segregation studies were described; Also reported in a control individual from a cohort of individuals without clinical cerebrovascular disease (McGlasson et al., 2017), although further clinical details and MRI imaging were not available; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18583934, 24224166, 29387804, 17660818)

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