ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)

dbSNP: rs903701604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002039779 SCV002114943 uncertain significance Spinocerebellar ataxia type 19/22 2021-05-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCND3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 591 of the KCND3 protein (p.Ser591Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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"). 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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