Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001320221 | SCV001510998 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-11-24 | 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. ClinVar contains an entry for this variant (Variation ID: 1020614). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs369250279, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1206 of the KIF1B protein (p.Leu1206Phe). |
| Ambry Genetics | RCV002456433 | SCV002616298 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-24 | criteria provided, single submitter | clinical testing | The p.L1206F variant (also known as c.3616C>T), located in coding exon 32 of the KIF1B gene, results from a C to T substitution at nucleotide position 3616. The leucine at codon 1206 is replaced by phenylalanine, an amino acid with highly 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. |