ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002713373 SCV003564919 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing (Li, 2010) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777684 SCV004569172 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-05-19 criteria provided, single submitter clinical testing 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: 2235833). This missense change has been observed in individual(s) with dyschromatosis symmetrica hereditaria (PMID: 20300939). This variant is present in population databases (rs374300359, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1026 of the ADAR protein (p.Arg1026Trp).

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