ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)

gnomAD frequency: 0.00010  dbSNP: rs139471471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811678 SCV000951957 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 219 of the ADAR protein (p.Gly219Ala). This variant is present in population databases (rs139471471, gnomAD 0.1%). 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: 655486). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225736 SCV003808056 uncertain significance Aicardi-Goutieres syndrome 6 2022-11-19 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting
Genome-Nilou Lab RCV003225736 SCV004050386 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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