Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004058769 | SCV002694876 | uncertain significance | not specified | 2024-06-15 | criteria provided, single submitter | clinical testing | The p.R450C variant (also known as c.1348C>T), located in coding exon 13 of the KIF1B gene, results from a C to T substitution at nucleotide position 1348. The arginine at codon 450 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |
| Labcorp Genetics |
RCV003744035 | SCV004448991 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-07-12 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KIF1B protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1770522). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 450 of the KIF1B protein (p.Arg450Cys). This variant is present in population databases (rs761449546, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. |