ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.865G>A (p.Asp289Asn)

gnomAD frequency: 0.00009  dbSNP: rs372242904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995582 SCV002275320 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-08-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ADAR-related conditions. 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. 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: 1482340). This variant is present in population databases (rs372242904, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 289 of the ADAR protein (p.Asp289Asn).

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