ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His)

dbSNP: rs747458897
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 RCV001370211 SCV001566678 uncertain significance Developmental and epileptic encephalopathy, 25 2020-11-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 380 of the SLC13A5 protein (p.Arg380His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs747458897, ExAC 0.006%). This variant has not been reported in the literature in individuals with SLC13A5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.