ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) (rs1555783467)

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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578156 SCV000680008 likely pathogenic Brown-Vialetto-Van Laere syndrome 1 2016-08-15 criteria provided, single submitter clinical testing A homozygous missense variant was identified, NM_033409.3(SLC52A3):c.1316G>A in exon 5 of the SLC52A3 gene (chr20:741764). This substitution is predicted to create a change of a glycine to an aspartic acid at amino acid position 439, NP_212134.3(SLC52A3):p.(Gly439Asp). The glycine at this position has high conservation and is not situated in a known functional domain. Grantham assessment is likely pathogenic for this variant due to both conservation and amino acid properties. In silico software predicts this variant to be disease causing. This variant has not been previously observed in our patient cohort, is not present in population databases and has not been previously reported in any clinical cases. Further biochemical evaluation confirmed riboflavin transporter defect in this patient. Based on current information, this variant has been classified as LIKELY PATHOGENIC.

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.