ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.26dup (p.Met9fs)

gnomAD frequency: 0.00001  dbSNP: rs768656482
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000687708 SCV000815293 pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met9Ilefs*80) in the DPAGT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DPAGT1 are known to be pathogenic (PMID: 22742743). This variant is present in population databases (rs768656482, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with DPAGT1-related conditions (PMID: 30117111). ClinVar contains an entry for this variant (Variation ID: 567578). For these reasons, this variant has been classified as Pathogenic.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291076 SCV001479439 likely pathogenic Congenital disorder of glycosylation 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.