Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001245718 | SCV001419021 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2019-11-10 | 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 conditions. This variant is present in population databases (rs367884252, ExAC 0.001%). This sequence change replaces tryptophan with serine at codon 1744 of the KIF1B protein (p.Trp1744Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. |
| Ambry Genetics | RCV002348835 | SCV002646055 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-11 | criteria provided, single submitter | clinical testing | The p.W1744S variant (also known as c.5231G>C), located in coding exon 45 of the KIF1B gene, results from a G to C substitution at nucleotide position 5231. The tryptophan at codon 1744 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |