ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)

gnomAD frequency: 0.00003  dbSNP: rs139005493
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 RCV002638388 SCV003522154 uncertain significance Developmental and epileptic encephalopathy, 25 2022-04-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with SLC13A5-related conditions. This variant is present in population databases (rs139005493, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 450 of the SLC13A5 protein (p.Leu450Ser).

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.