ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) (rs373698346)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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,London Health Sciences Centre RCV000144876 SCV001336694 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144876 SCV000172148 likely pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.