ClinVar Miner

Submissions for variant NM_015352.2(POFUT1):c.637G>C (p.Val213Leu)

gnomAD frequency: 0.00007  dbSNP: rs578147902
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001210235 SCV001381710 uncertain significance Dowling-Degos disease 2 2019-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POFUT1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs578147902, ExAC 0.01%). This sequence change replaces valine with leucine at codon 213 of the POFUT1 protein (p.Val213Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine.

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.