Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001840890 | SCV002099675 | uncertain significance | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | Has been observed in a patient with MODY in the published literature; additional specific details regarding the diagnosis and renal clinical features were not specified in this report (PMID: 33852230); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17924661, 33852230) |
| Labcorp Genetics |
RCV001840890 | SCV002155064 | pathogenic | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 305 of the HNF1B protein (p.Lys305Glu). 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. This missense change has been observed in individual(s) with clinical features of HNF1B-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |