Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000620664 | SCV000738015 | uncertain significance | Cardiovascular phenotype | 2017-05-16 | criteria provided, single submitter | clinical testing | The p.A172T variant (also known as c.514G>A), located in coding exon 1 of the KCND3 gene, results from a G to A substitution at nucleotide position 514. The alanine at codon 172 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001868114 | SCV002186234 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2021-08-25 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). ClinVar contains an entry for this variant (Variation ID: 519447). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 172 of the KCND3 protein (p.Ala172Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |