ClinVar Miner

Submissions for variant NM_000789.4(ACE):c.3695G>A (p.Arg1232His)

dbSNP: rs372282664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011193 SCV002288694 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1232 of the ACE protein (p.Arg1232His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs372282664, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ACE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002479741 SCV002786292 uncertain significance Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 2022-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002011193 SCV004699120 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing ACE: PM2, BP4

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.