ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe)

dbSNP: rs1697555171
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231962 SCV001404501 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2019-08-22 criteria provided, single submitter clinical testing 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 690 of the ADAR protein (p.Ser690Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine.

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