ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) (rs41274468)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467791 SCV000547914 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 674 of the KIF1B protein (p.Thr674Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs41274468, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease (PMID: 29590070). ClinVar contains an entry for this variant (Variation ID: 408312). 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: 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.
Center for Precision Medicine,Vanderbilt University Medical Center RCV000760166 SCV000889984 uncertain significance Charcot-Marie-Tooth disease, type 2A1 2018-03-16 criteria provided, single submitter research
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174207 SCV001337333 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507419 SCV001712962 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing

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