Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001918045 | SCV002168805 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2021-06-17 | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIF1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 196 of the KIF1B protein (p.Met196Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. |
| Ambry Genetics | RCV004041730 | SCV002654278 | uncertain significance | not specified | 2024-11-06 | criteria provided, single submitter | clinical testing | The p.M196V variant (also known as c.586A>G), located in coding exon 5 of the KIF1B gene, results from an A to G substitution at nucleotide position 586. The methionine at codon 196 is replaced by valine, an amino acid with highly 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |