ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)

dbSNP: rs1553235768
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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 RCV000555772 SCV000640060 uncertain significance Spinocerebellar ataxia type 19/22 2020-02-07 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KCND3-related disease. This sequence change replaces proline with leucine at codon 534 of the KCND3 protein (p.Pro534Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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