ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.85C>G (p.Gln29Glu) (rs760368705)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200683 SCV000255012 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-09-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 29 of the KIF1B protein (p.Gln29Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs760368705, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with KIF1B-related disease. ClinVar contains an entry for this variant (Variation ID: 216686). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311621 SCV001501872 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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