ClinVar Miner

Submissions for variant NM_031418.4(ANO3):c.1585C>A (p.Pro529Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002785944 SCV003025585 uncertain significance Dystonic disorder 2022-03-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs371081253, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 529 of the ANO3 protein (p.Pro529Thr). This variant has not been reported in the literature in individuals affected with ANO3-related conditions. 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 C0"). 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.
Revvity Omics, Revvity RCV003138353 SCV003818643 uncertain significance Dystonia 24 2021-10-06 criteria provided, single submitter clinical testing

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