Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001216767 | SCV001388579 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-04-07 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 946000). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs749523745, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 869 of the KIF1B protein (p.Thr869Met). |
| Ambry Genetics | RCV002429922 | SCV002740700 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-25 | criteria provided, single submitter | clinical testing | The p.T869M variant (also known as c.2606C>T), located in coding exon 24 of the KIF1B gene, results from a C to T substitution at nucleotide position 2606. The threonine at codon 869 is replaced by methionine, an amino acid with 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |