ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000013480 SCV000926140 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
GeneDx 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

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