ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030532 SCV000053203 likely pathogenic Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000030532 SCV000926094 likely pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Molecular Biology Laboratory, Fundació Puigvert RCV000030532 SCV001425091 likely pathogenic Renal cysts and diabetes syndrome 2020-02-01 criteria provided, single submitter research
Invitae RCV001852606 SCV002265600 uncertain significance not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 235 of the HNF1B protein (p.Arg235Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of HNF1B-related conditions (PMID: 24698406, 26669242, 33532864). This variant is also known as p.Arg234Trp. ClinVar contains an entry for this variant (Variation ID: 36851). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HNF1B protein function. 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.
Athena Diagnostics Inc RCV001852606 SCV004229335 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) The variant is located in a region that is considered important for protein function and/or structure.

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.