ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)

gnomAD frequency: 0.00006  dbSNP: rs373667326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819292 SCV000959943 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2025-01-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 589 of the ADAR protein (p.Thr589Arg). This variant is present in population databases (rs373667326, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 661797). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ADAR protein function with a negative predictive value of 80%. 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 RCV001091724 SCV001247917 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535498 SCV003544002 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.1766C>G (p.T589R) alteration is located in exon 3 (coding exon 3) of the ADAR gene. This alteration results from a C to G substitution at nucleotide position 1766, causing the threonine (T) at amino acid position 589 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003338822 SCV004050361 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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