Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV000030532 | SCV000926094 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Molecular Biology Laboratory, |
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. |