ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser)

gnomAD frequency: 0.00001  dbSNP: rs775500671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001898834 SCV002174139 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 865 of the ADAR protein (p.Gly865Ser). This variant is present in population databases (rs775500671, gnomAD 0.003%). 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: 1403640). 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 expected to disrupt ADAR protein function. 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.

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