ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)

dbSNP: rs2133788865
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 RCV002004674 SCV002233380 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2021-08-05 criteria provided, single submitter clinical testing 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. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant is also known as C1492A (Phe440Leu). This missense change has been observed in individual(s) with hyperinsulinism-hyperammonemia syndrome (PMID: 10871207). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 493 of the GLUD1 protein (p.Phe493Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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.