ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.4682G>A (p.Cys1561Tyr) (rs145969842)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000373752 SCV000346730 uncertain significance Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000469029 SCV000346731 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315786 SCV000346732 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469029 SCV000547917 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1561 of the KIF1B protein (p.Cys1561Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs145969842, ExAC 0.03%). This variant has not been reported in the literature in individuals with KIF1B-related disease. ClinVar contains an entry for this variant (Variation ID: 291582). 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"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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