ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)

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 RCV002620500 SCV003506187 uncertain significance Fanconi-Bickel syndrome 2022-01-15 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. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 381 of the SLC2A2 protein (p.Ile381Asn). This variant is present in population databases (rs750782646, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC2A2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A2 protein function.
Fulgent Genetics, Fulgent Genetics RCV005028271 SCV005657494 uncertain significance Type 2 diabetes mellitus; Fanconi-Bickel syndrome 2024-04-24 criteria provided, single submitter clinical testing

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.