ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003822525 SCV004619246 uncertain significance Spinocerebellar ataxia type 19/22 2023-01-08 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCND3 protein function. This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (rs767907252, gnomAD 0.009%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 174 of the KCND3 protein (p.Glu174Gln).

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