ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu)

dbSNP: rs2101556867
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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 RCV002024034 SCV002307690 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-09-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with leucine at codon 1211 of the ADAR protein (p.Trp1211Leu). The tryptophan residue is highly conserved and there is a small physicochemical difference between tryptophan and leucine. 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 disruptive. This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (ExAC no frequency).

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