ClinVar Miner

Submissions for variant NM_000477.7(ALB):c.*102_*108del

dbSNP: rs750893435
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
Biochemistry Laboratory, Bechir Hamza Children's Hospital RCV001420182 SCV001573895 pathogenic Analbuminemia no assertion criteria provided research Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in Tunisian patient, who presented with a low albumin concentration (4 g/L) detected by by immunonephelometry. Automated capillary electrophoresis of serum proteins confirmed the presence of a similarly low albumin concentration ( 5 g/L). The patient was hospitalized for cardiac complications associated with dyslipidemia. The albumin gene of the index case was screened by DNA sequencing and the results revealed a novel 3'UTR mutation.

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.