Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001042598 | SCV001206291 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-07-06 | 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 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"). ClinVar contains an entry for this variant (Variation ID: 840568). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs142714491, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 1589 of the KIF1B protein (p.Cys1589Phe). |
| Ambry Genetics | RCV003307826 | SCV003999193 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-08 | criteria provided, single submitter | clinical testing | The p.C1589F variant (also known as c.4766G>T), located in coding exon 42 of the KIF1B gene, results from a G to T substitution at nucleotide position 4766. The cysteine at codon 1589 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |