ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) (rs267606684)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000000164 SCV000775602 uncertain significance Brown-Vialetto-Van Laere syndrome 1 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 132 of the SLC52A3 protein (p.Arg132Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs267606684, ExAC 0.006%). This variant has been reported to segregate with Brown-Vialetto-Van Laere syndrome (BVVLS) in a single family (PMID: 2020633). ClinVar contains an entry for this variant (Variation ID: 141). Experimental studies have shown that this missense change leads to cellular mislocalization of the SLC52A3 protein (PMID: 22273710). 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.
OMIM RCV000000164 SCV000020307 pathogenic Brown-Vialetto-Van Laere syndrome 1 2010-03-12 no assertion criteria provided literature only
GeneReviews RCV000000164 SCV000246215 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 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.