ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp)

gnomAD frequency: 0.00006  dbSNP: rs371050239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240890 SCV001413871 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-08-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs371050239, gnomAD 0.008%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 398 of the ADAR protein (p.Asn398Asp). 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: 966255). 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. 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 RCV003405438 SCV004124876 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ADAR: BP4

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