ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1062T>G (p.His354Gln)

gnomAD frequency: 0.00001  dbSNP: rs767103774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233310 SCV001405897 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-02-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 354 of the ADAR protein (p.His354Gln). This variant is not present in population databases (gnomAD no frequency). 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: 959879). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001233310 SCV002789114 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339545 SCV004050379 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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