ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)

dbSNP: rs1416519719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307854 SCV001497282 uncertain significance Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 198 of the TREX1 protein (p.Glu198Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with Aicardi-Goutieres Syndrome and Sjogren’s syndrome (PMID: 20131292, 24224166). ClinVar contains an entry for this variant (Variation ID: 1010253). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002543212 SCV003699538 uncertain significance Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing The c.592G>A (p.E198K) alteration is located in exon 2 (coding exon 1) of the TREX1 gene. This alteration results from a G to A substitution at nucleotide position 592, causing the glutamic acid (E) at amino acid position 198 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003135949 SCV003807844 uncertain significance Aicardi-Goutieres syndrome 1 2022-06-07 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderated, PP3 supporting

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