ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)

gnomAD frequency: 0.00001  dbSNP: rs750370418
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000799048 SCV000938695 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2018-11-08 criteria provided, single submitter clinical testing This sequence change affects codon 171 of the B4GAT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the B4GAT1 protein. This variant is present in population databases (rs750370418, ExAC 0.002%). This variant has not been reported in the literature in individuals with B4GAT1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.