ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)

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 RCV001350992 SCV001545423 uncertain significance Hereditary hemorrhagic telangiectasia 2020-03-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 230 of the ENG protein (p.Gly230Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs546671241, ExAC 0.03%). This variant has been observed in individual(s) with nosebleed (PMID: 25312062). This variant has been reported not to substantially affect ENG protein function (PMID: 25312062). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.