Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000013480 | SCV000926140 | pathogenic | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Gene |
RCV001551662 | SCV001772220 | pathogenic | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | Identified in two siblings in the published literature, with one sibling having neonatal diabetes mellitus and a few renal cyts and the other siblng having neonatal polycystic dysplastic kidneys and a transient episode of hyperglycemia, whose clinically unaffected mother had low level mosaicisam for the variant (Yorifuji et al., 2004); Published functional studies demonstrate a damaging effect with impaired function of HNF1B by loss of function and dominant negative mechanisms (Yorifuji et al., 2004); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 15181075) |
OMIM | RCV000013480 | SCV000033727 | pathogenic | Renal cysts and diabetes syndrome | 2004-06-01 | no assertion criteria provided | literature only |