ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) (rs374098797)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065481 SCV001230439 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1090 of the KIF1B protein (p.Ile1090Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs374098797, ExAC 0.01%), 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 conditions. ClinVar contains an entry for this variant (Variation ID: 155749). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173597 SCV001336697 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143820 SCV000188714 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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