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

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Total submissions: 2

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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.
Dept. of Medical Genetics, Telemark Hospital Trust	RCV000144876	SCV000172148	likely pathogenic	Charcot-Marie-Tooth disease	2013-11-01	no assertion criteria provided	research

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