ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser)

gnomAD frequency: 0.00003  dbSNP: rs200830156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650238 SCV000772078 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 515 of the ADAR protein (p.Ala515Ser). This variant is present in population databases (rs200830156, gnomAD 0.02%). 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: 540263). 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 with a negative predictive value of 80%. 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 RCV002531953 SCV003195172 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003338719 SCV004050367 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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