Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001728135 | SCV001976580 | uncertain significance | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing | The KCND2 c.997A>G (p.Met333Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were identified through this search. This variant is not found in the Genome Aggregation Database despite its location a region of good sequencing coverage, which suggests the variant is rare is rare. This is located in the S6 helical transmembrane domain of the protein. Based on the available evidence, the p.Met333Val variant is classified as a variant of uncertain significance. |
| Labcorp Genetics |
RCV002300571 | SCV002591407 | uncertain significance | Early myoclonic encephalopathy | 2022-08-02 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 333 of the KCND2 protein (p.Met333Val). 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. 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 KCND2 protein function. ClinVar contains an entry for this variant (Variation ID: 1299437). This variant has not been reported in the literature in individuals affected with KCND2-related conditions. This variant is not present in population databases (gnomAD no frequency). |