Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001304508 | SCV001493793 | uncertain significance | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2023-02-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 66 of the ADAR protein (p.Pro66Ala). ClinVar contains an entry for this variant (Variation ID: 1007339). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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. |