ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)

dbSNP: rs1203572202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685124 SCV000812597 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-14 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 594 of the ADAR protein (p.Glu594Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 565540). 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 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 RCV002275103 SCV002562940 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing ADAR: PM2, BP4
Genome-Nilou Lab RCV003338730 SCV004050360 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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