ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.1882T>C (p.Trp628Arg)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004785904 SCV005401026 uncertain significance Renal tubular dysgenesis of genetic origin 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.1882T>C(p.Trp628Arg) variant in ACE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Trp628Arg variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - probably Damaging, SIFT -Damaging and MutationTaster -disease causing) predict damaging effect on protein structure and function for this variant. The reference amino acid in ACE is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Trp at position 628 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS). In absence of another reportable variant in ACE gene, the molecular diagnosis is not confirmed.

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.