ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)

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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 RCV003640860 SCV004512885 uncertain significance Spinocerebellar ataxia type 19/22 2023-09-21 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 458 of the KCND3 protein (p.Gly458Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. 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.

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