ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.1063del (p.Leu355fs)

dbSNP: rs758259853
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
Invitae RCV000809396 SCV000949546 pathogenic ALG1-congenital disorder of glycosylation 2018-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu355Cysfs*3) in the ALG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALG1 are known to be pathogenic (PMID: 20679665, 23806237). This variant has not been reported in the literature in individuals with ALG1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.

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.