ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys) (rs763122049)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414814 SCV000492549 uncertain significance Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 2015-09-23 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198218 SCV001369088 uncertain significance Pheochromocytoma 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Invitae RCV001366184 SCV001562480 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-06-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 825 of the KIF1B protein (p.Glu825Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs763122049, ExAC 0.01%). This variant has not been reported in the literature in individuals with KIF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 373920). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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