ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)

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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 RCV003641797 SCV004503038 uncertain significance Spinocerebellar ataxia type 19/22 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 622 of the KCND3 protein (p.Ala622Glu). This variant is present in population databases (rs199663609, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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