ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2921dup (p.Asp975fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center RCV003330301 SCV004037342 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2020-01-24 criteria provided, single submitter clinical testing The c.2921dupC variant is a heterozygous single nucleotide duplication in exon 20 of 22 of the KIF11 gene, resulting in the substitution of the aspartic acid at position 975 to a glycine and a reading frame shift causing premature termination codon downstream. The variant is not observed in the Genome Aggregation Database (gnomAD), indicating it is not a common benign variant in the populations represented in this database. To the best of our knowledge, this variant has not been described to be associated with disease in the literature. However, truncating variants have been shown to cause disease, including further downstream variants [PMID: 24281367, 22284827, and 27212378].

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.