ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)

dbSNP: rs867628133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300818 SCV001489967 uncertain significance Spinocerebellar ataxia type 19/22 2020-10-20 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 (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. 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 tryptophan at codon 357 of the KCND3 protein (p.Ser357Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan.

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