ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser)

dbSNP: rs1475258937
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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 RCV001895006 SCV002151969 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-08-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 12 of the ADAR protein (p.Tyr12Ser). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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