ClinVar Miner

Submissions for variant NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu)

dbSNP: rs1555185818
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 RCV000521094 SCV000620737 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the B4GALNT1 gene. The G467E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G467E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G467E 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 in mammals; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Baylor Genetics RCV003333075 SCV004040901 uncertain significance Hereditary spastic paraplegia 26 2023-06-14 criteria provided, single submitter 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.