ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)

dbSNP: rs754042199
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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 RCV001242995 SCV001416123 uncertain significance Spinocerebellar ataxia type 19/22 2019-10-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with KCND3-related conditions. This variant is present in population databases (rs754042199, ExAC 0.006%). This sequence change replaces arginine with glycine at codon 86 of the KCND3 protein (p.Arg86Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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