ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.434T>A (p.Val145Glu)

dbSNP: rs1773915383
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001172232 SCV001491707 pathogenic Arginase deficiency 2021-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 145 of the ARG1 protein (p.Val145Glu). For these reasons, this variant has been classified as Pathogenic. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 916528). This variant is also known as c.458T>A (p.Val153Glu). This missense change has been observed in individual(s) with arginase deficiency (PMID: 33193012). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
Department of Biochemistry, Faculty of Medicine, University of Khartoum RCV001172232 SCV001334254 pathogenic Arginase deficiency no assertion criteria provided research

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.