Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV000787199 | SCV000926129 | pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
| Labcorp Genetics |
RCV001869186 | SCV002176881 | pathogenic | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: 635689). This missense change has been observed in individuals with clinical features of autosomal dominant renal cysts and diabetes syndrome (PMID: 22034641, 25367728; Invitae). It has also been observed to segregate with disease in related individuals. This sequence change replaces methionine with valine at codon 160 of the HNF1B protein (p.Met160Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. |
| Gene |
RCV001869186 | SCV005906376 | likely pathogenic | not provided | 2024-10-07 | criteria provided, single submitter | clinical testing | 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, 25700310, 22034641, 25367728) |