Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001923385 | SCV002180285 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2021-04-07 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 proline with serine at codon 1085 of the KIF1B protein (p.Pro1085Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |
| Ambry Genetics | RCV004043376 | SCV002610936 | uncertain significance | not specified | 2021-09-28 | criteria provided, single submitter | clinical testing | The p.P1085S variant (also known as c.3253C>T), located in coding exon 28 of the KIF1B gene, results from a C to T substitution at nucleotide position 3253. The proline at codon 1085 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |