Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001856215 | SCV002178200 | uncertain significance | not provided | 2021-02-13 | 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. 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. This variant has not been reported in the literature in individuals with HNF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 636234). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 153 of the HNF1B protein (p.His153Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. |
| Clinical Genomics, |
RCV002464321 | SCV002688764 | likely risk allele | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs1598848762, yet. | |
| Institute of Human Genetics, |
RCV000787937 | SCV000926260 | likely pathogenic | Hyperuricemic nephropathy, familial juvenile type 3 | no assertion criteria provided | clinical testing |