ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met)

gnomAD frequency: 0.00013  dbSNP: rs201036096
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000551020 SCV000655321 likely benign Developmental and epileptic encephalopathy, 25 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384246 SCV002689521 uncertain significance Inborn genetic diseases 2018-11-14 criteria provided, single submitter clinical testing The p.V431M variant (also known as c.1291G>A), located in coding exon 10 of the SLC13A5 gene, results from a G to A substitution at nucleotide position 1291. The valine at codon 431 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.