ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.547G>A (p.Gly183Ser)

gnomAD frequency: 0.00002  dbSNP: rs779939725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650241 SCV000772081 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-19 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 183 of the ADAR protein (p.Gly183Ser). This variant is present in population databases (rs779939725, gnomAD 0.08%). 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: 540266). 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 disruptive. 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.
GeneDx RCV001576799 SCV001804056 uncertain significance not provided 2018-10-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003338721 SCV004050389 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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