Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001370944 | SCV001567492 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-03-05 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.879_881del, results in the deletion of 1 amino acid(s) of the KIF1B protein (p.Lys294del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV004037487 | SCV002687272 | uncertain significance | not specified | 2022-02-07 | criteria provided, single submitter | clinical testing | The c.879_881delGAA variant (also known as p.K294del) is located in coding exon 9 of the KIF1B gene. This variant results from an in-frame GAA deletion at nucleotide positions 879 to 881. This results in the in-frame deletion of a lysine at codon 294. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |