ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln)

gnomAD frequency: 0.00001  dbSNP: rs750048114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994112 SCV001147435 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230851 SCV001403350 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-04-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs750048114, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 850 of the ADAR protein (p.Arg850Gln). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADAR protein function. ClinVar contains an entry for this variant (Variation ID: 806224). 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.
Genome-Nilou Lab RCV003338894 SCV004050339 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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