ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg)

dbSNP: rs2132929609
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV002275380 SCV002559861 likely pathogenic See cases 2022-08-12 criteria provided, single submitter clinical testing The variant is not present in population database gnomAD nor in the MDSGene mutation database (https://www.mdsgene.org/) (PM2). In silico predictions are indicative of a pathogenic effect on the protein (PP3). The variant co-segregated with the affected family members (PP1). The phenotype is specific (PP4). In this particular domain there are very few benign missense variants (PP2).
CeGaT Center for Human Genetics Tuebingen RCV002511148 SCV002821619 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing ANO3: PP1:Strong, PM2, PP4, PS4:Supporting
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003336516 SCV004045965 likely pathogenic Dystonia 24 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV002511148 SCV005081165 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36228993)

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