ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)

dbSNP: rs1420542041
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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 RCV000700474 SCV000829231 uncertain significance Spinocerebellar ataxia type 19/22 2018-04-10 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 581 of the KCND3 protein (p.Ser581Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCND3-related disease. This variant is not present in population databases (ExAC no frequency).

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