Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001223941 | SCV001396112 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2019-06-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 852 of the KIF1B protein (p.Gly852Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs766101107, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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 | RCV002429951 | SCV002742978 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-03 | criteria provided, single submitter | clinical testing | The p.G852D variant (also known as c.2555G>A), located in coding exon 24 of the KIF1B gene, results from a G to A substitution at nucleotide position 2555. The glycine at codon 852 is replaced by aspartic acid, 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. |