ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.2596G>A (p.Val866Ile)

gnomAD frequency: 0.00006  dbSNP: rs943393659
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
GeneDx RCV000519057 SCV000619794 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing The V866I variant in the KIAA1109 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V866I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V866I 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 Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V866I as a variant of uncertain significance.

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.