ClinVar Miner

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

dbSNP: rs1590612392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795317 SCV000934772 likely pathogenic Dystonic disorder 2018-11-21 criteria provided, single submitter clinical testing 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. 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"). This variant has been observed to be de novo in an individual affected with dystonia (PMID: 27666935). This variant is not present in population databases (ExAC no frequency). 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.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995494 SCV001149683 pathogenic Dystonia 24 2019-06-13 criteria provided, single submitter clinical testing
GeneDx RCV004719992 SCV005326221 likely pathogenic not provided 2023-11-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30455893, 33388357, 31053532, Boddu2023[preprint], 33098801, 35872528, 30502610, 33247415, 27666935, 33488508)

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