ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.581C>T (p.Ser194Leu)

gnomAD frequency: 0.00004  dbSNP: rs531702332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945120 SCV002181287 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 194 of the TREX1 protein (p.Ser194Leu). This variant is present in population databases (rs531702332, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TREX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1413822). 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: "Benign"; 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.
CeGaT Center for Human Genetics Tuebingen RCV002292677 SCV002585985 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing

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