ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) (rs142608069)

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
Genetic Services Laboratory, University of Chicago RCV000147223 SCV000194590 uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 2014-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000520695 SCV000617051 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the PCNT gene. The R2800W variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R2800W variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R2800W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved through mammals. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with epilepsy (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.