ClinVar Miner

Submissions for variant NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)

dbSNP: rs1064794465
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
GeneDx RCV000484706 SCV000569247 likely pathogenic not provided 2016-01-26 criteria provided, single submitter clinical testing The c.986_988delAGA variant has not been reported previously as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. This variant causes an inframe deletion of a single amino acid residue,denoted p.Lys329del. This deletion occurs at a region that is not conserved; however, this variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.986_988delAGA variant is a strong candidate for a pathogenic variant.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000484706 SCV002583662 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing PM4, PM2, PM3_Supporting
Genomics England Pilot Project, Genomics England RCV001542780 SCV001760324 likely pathogenic ALG11-congenital disorder of glycosylation no assertion criteria provided clinical testing

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.