Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001302667 | SCV001491884 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2020-08-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs147043919, ExAC 0.01%). This sequence change replaces valine with alanine at codon 1353 of the KIF1B protein (p.Val1353Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant has not been reported in the literature in individuals with KIF1B-related conditions. 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 C0"). 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. |
| Ambry Genetics | RCV002322200 | SCV002632431 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-29 | criteria provided, single submitter | clinical testing | The p.V1353A variant (also known as c.4058T>C), located in coding exon 37 of the KIF1B gene, results from a T to C substitution at nucleotide position 4058. The valine at codon 1353 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |