ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)

gnomAD frequency: 0.00004  dbSNP: rs747928745
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817714 SCV002069033 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869783 SCV002177462 uncertain significance not provided 2021-10-16 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is also known as p.Gly171Arg. This variant has been observed in individual(s) with autosomal dominant familial hyperinsulinism (PMID: 23506826). This variant is present in population databases (rs747928745, ExAC 0.01%). This sequence change replaces glycine with arginine at codon 149 of the HNF4A protein (p.Gly149Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002478063 SCV002780338 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001869783 SCV005194982 uncertain significance not provided criteria provided, single submitter not provided

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.