ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)

gnomAD frequency: 0.00001  dbSNP: rs770793371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817694 SCV000958272 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2018-09-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs770793371, ExAC 0.001%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ADAR-related disease. This sequence change replaces isoleucine with threonine at codon 330 of the ADAR protein (p.Ile330Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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