ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)

gnomAD frequency: 0.00022  dbSNP: rs115159138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362236 SCV001558244 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 306 of the NEUROD1 protein (p.Ala306Val). 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. 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 not expected to disrupt NEUROD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1053839). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (rs115159138, gnomAD 0.07%).
GeneDx RCV001362236 SCV002574354 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488105 SCV002789440 uncertain significance Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-04-12 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.