ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002828728 SCV003213732 uncertain significance Spinocerebellar ataxia type 19/22 2022-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCND3-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 585 of the KCND3 protein (p.Ser585Phe).

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