Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000013482 | SCV000926123 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Molecular Biology Laboratory, |
RCV000013482 | SCV001425087 | likely pathogenic | Renal cysts and diabetes syndrome | 2020-02-01 | criteria provided, single submitter | research | |
Athena Diagnostics Inc | RCV001659694 | SCV001880034 | pathogenic | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant appears to occur de novo in multiple individuals with clinical features associated with this gene. This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant reduces the transactivation capacity of the protein (PMID: 15509593). Computational tools predict that this variant is damaging. |
Genetic Services Laboratory, |
RCV001659694 | SCV002069114 | likely pathogenic | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001659694 | SCV002245826 | pathogenic | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 HNF1B protein function. ClinVar contains an entry for this variant (Variation ID: 12647). This missense change has been observed in individual(s) with renal cysts and diabetes syndrome (PMID: 15068978, 22051731, 24254850, 31198537). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 165 of the HNF1B protein (p.Arg165His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
Molecular Genetics, |
RCV002051783 | SCV002318388 | likely pathogenic | Maturity onset diabetes mellitus in young | criteria provided, single submitter | clinical testing | ||
Genetics and Molecular Pathology, |
RCV002466400 | SCV002761482 | pathogenic | Type 2 diabetes mellitus | 2021-08-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482860 | SCV002802906 | pathogenic | Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma | 2021-11-17 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013482 | SCV000033729 | pathogenic | Renal cysts and diabetes syndrome | 2005-03-01 | no assertion criteria provided | literature only | |
Yale Center for Mendelian Genomics, |
RCV000013482 | SCV002106557 | likely pathogenic | Renal cysts and diabetes syndrome | 2019-01-17 | no assertion criteria provided | literature only |