Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001969736 | SCV002218573 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 620 of the KCND3 protein (p.Pro620His). This variant is present in population databases (rs758318696, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1441909). 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. 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. |
| Ambry Genetics | RCV004043166 | SCV005023422 | uncertain significance | Cardiovascular phenotype | 2024-02-04 | criteria provided, single submitter | clinical testing | The p.P620H variant (also known as c.1859C>A), located in coding exon 7 of the KCND3 gene, results from a C to A substitution at nucleotide position 1859. The proline at codon 620 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |