ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) (rs1590612392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795317 SCV000934772 likely pathogenic Dystonia 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 510 of the ANO3 protein (p.Glu510Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with dystonia (PMID: 27666935). 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: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000995494 SCV001149683 pathogenic Dystonia 24 2019-06-13 no assertion criteria provided clinical testing

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