ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.908C>T (p.Thr303Ile)

dbSNP: rs765487310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202980 SCV001374120 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 303 of the TREX1 protein (p.Thr303Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 934565). This variant has not been reported in the literature in individuals affected with TREX1-related conditions. This variant is present in population databases (rs765487310, gnomAD 0.009%).

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