Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167979 | SCV000218627 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2014-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 294 of the KIF1B protein (p.Lys294Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This sequence change has been reported in a patient affected with CMT2 (PMID: 25025039) and is present in population databases (rs373698346, 0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; MutationTaster: "disease-causing"; Align-GVGD: "Class C0"). In summary, this is a rare missense change that has been observed in a CMT2 patient with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance. |
Molecular Genetics Laboratory, |
RCV000144876 | SCV001336694 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Dept. |
RCV000144876 | SCV000172148 | likely pathogenic | Charcot-Marie-Tooth disease | 2013-11-01 | no assertion criteria provided | research |