Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001349620 | SCV001543972 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2020-05-26 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 1520 of the KIF1B protein (p.Tyr1520Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 | RCV004036590 | SCV002637264 | uncertain significance | not specified | 2023-06-24 | criteria provided, single submitter | clinical testing | The p.Y1520C variant (also known as c.4559A>G), located in coding exon 40 of the KIF1B gene, results from an A to G substitution at nucleotide position 4559. The tyrosine at codon 1520 is replaced by cysteine, an amino acid with highly dissimilar 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. |