ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004051210 SCV002630168 uncertain significance not specified 2023-03-30 criteria provided, single submitter clinical testing The c.1163-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 12 of the KIF1B gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102510 SCV003284704 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the KIF1B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KIF1B cause disease. This variant is present in population databases (rs775090163, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1737388). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV005042808 SCV005669939 uncertain significance Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1 2024-06-18 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.