Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001174211 | SCV001337337 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002339429 | SCV002641913 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-23 | criteria provided, single submitter | clinical testing | The p.I1698T variant (also known as c.5093T>C), located in coding exon 44 of the KIF1B gene, results from a T to C substitution at nucleotide position 5093. The isoleucine at codon 1698 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |