ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)

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
Invitae RCV001071252 SCV001236545 uncertain significance Hereditary hemorrhagic telangiectasia 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 225 of the ENG protein (p.Pro225Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs781715616, ExAC 0.02%). This variant has been observed in an individual affected with hereditary hemorrhagic telangiectasia who also carried a pathogenic allele in the ENG gene (PMID: 19767588). 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: Probably Damaging; Align-GVGD: Class C0). 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.

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.