ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)

dbSNP: rs1553213121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650239 SCV000772079 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-04-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 540264). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 368 of the ADAR protein (p.Asn368Ile).
Revvity Omics, Revvity RCV003140041 SCV003824990 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338720 SCV004050377 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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