Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001877840 | SCV002145897 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-06-15 | 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. 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 not expected to disrupt KIF1B protein function. ClinVar contains an entry for this variant (Variation ID: 1374463). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 192 of the KIF1B protein (p.Ile192Val). |
| Ambry Genetics | RCV004040620 | SCV002650701 | uncertain significance | not specified | 2022-08-29 | criteria provided, single submitter | clinical testing | The p.I192V variant (also known as c.574A>G), located in coding exon 5 of the KIF1B gene, results from an A to G substitution at nucleotide position 574. The isoleucine at codon 192 is replaced by valine, an amino acid with highly similar 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. |