ClinVar Miner

Submissions for variant NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser)

dbSNP: rs2135940602
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
SIB Swiss Institute of Bioinformatics RCV001815046 SCV002540191 uncertain significance Congenital disorder of glycosylation, type Iw, autosomal dominant 2022-06-16 criteria provided, single submitter curation This variant is interpreted as variant of uncertain significance for congenital disorder of glycosylation 1W, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
OMIM RCV001815046 SCV002061885 pathogenic Congenital disorder of glycosylation, type Iw, autosomal dominant 2022-01-20 no assertion criteria provided literature only

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.