ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)

dbSNP: rs1261735013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001920263 SCV002186138 uncertain significance Spinocerebellar ataxia type 19/22 2021-09-15 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 632 of the KCND3 protein (p.Pro632Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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