ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)

dbSNP: rs2101456436
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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 RCV001970368 SCV002249509 uncertain significance Spinocerebellar ataxia type 19/22 2023-04-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1467275). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 558 of the KCND3 protein (p.Pro558Ser). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCND3 protein function. 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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