Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001316844 | SCV001507482 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2020-05-06 | 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 present in population databases (rs751046833, ExAC 0.01%). This sequence change replaces leucine with phenylalanine at codon 1484 of the KIF1B protein (p.Leu1484Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. |
| Ambry Genetics | RCV004034405 | SCV002637137 | uncertain significance | not specified | 2024-06-10 | criteria provided, single submitter | clinical testing | The p.L1484F variant (also known as c.4452A>T), located in coding exon 40 of the KIF1B gene, results from an A to T substitution at nucleotide position 4452. The leucine at codon 1484 is replaced by phenylalanine, 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 tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |