Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000823655 | SCV000964522 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2021-08-23 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIF1B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 520 of the KIF1B protein (p.Arg520Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |
| Ambry Genetics | RCV004029152 | SCV002704395 | uncertain significance | not specified | 2024-01-27 | criteria provided, single submitter | clinical testing | The p.R520C variant (also known as c.1558C>T), located in coding exon 16 of the KIF1B gene, results from a C to T substitution at nucleotide position 1558. The arginine at codon 520 is replaced by cysteine, an amino acid with highly dissimilar 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. |