ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) (rs143599552)

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 RCV000482576 SCV000574224 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing The S4287F variant in the HUWE1 gene has not been reported previously in a peer reviewed journal as a pathogenic variant, nor as a benign variant, to our knowledge. However, in a dissertation by Friez (2014), S4287F was reported as a variant of uncertain significance in an male who underwent X-linked intellectual disability panel testing. The S4287F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S4287F 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S4287F as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000766099 SCV000897577 uncertain significance Mental retardation, X-linked, syndromic, Turner type 2018-10-31 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.