Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035900 | SCV001199240 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-01-24 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 835091). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs369255811, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1169 of the KIF1B protein (p.Pro1169Leu). |
Ambry Genetics | RCV002337084 | SCV002618857 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-19 | criteria provided, single submitter | clinical testing | The p.P1169L variant (also known as c.3506C>T), located in coding exon 31 of the KIF1B gene, results from a C to T substitution at nucleotide position 3506. The proline at codon 1169 is replaced by leucine, 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. |