ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) (rs372079206)

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
GeneDx RCV000442361 SCV000520888 likely pathogenic not provided 2016-11-17 criteria provided, single submitter clinical testing The G227E variant in the ALG6 gene has been previously reported in four individuals with CDG Type 1c who all harbored another ALG6 pathogenic variant, although the phase of these two variants was not confirmed (Dercksen et al., 2013). This variant was not observed at any significant frequency 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 G227E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The G227E variant is a strong candidate for a pathogenic variant.
Counsyl RCV000664900 SCV000788930 likely pathogenic Congenital disorder of glycosylation type 1C 2017-01-03 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.