ClinVar Miner

Submissions for variant NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)

gnomAD frequency: 0.00002  dbSNP: rs750566749
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523880 SCV000619911 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing The I541V variant in the CKAP2L gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I541V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I541V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret I541V as a variant of uncertain significance.
Revvity Omics, Revvity RCV003488650 SCV004235319 uncertain significance Filippi syndrome 2023-11-17 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.