ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1006del (p.His336fs)

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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 RCV000787103 SCV000926032 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
GeneDx RCV001008949 SCV001168757 pathogenic not provided 2022-03-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31447099, 32488808)
Labcorp Genetics (formerly Invitae), Labcorp RCV001008949 SCV002965349 pathogenic not provided 2024-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His336Thrfs*40) in the HNF1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HNF1B are known to be pathogenic (PMID: 9398836, 12148114, 15068978, 20378641). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HNF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 635616). For these reasons, this variant has been classified as Pathogenic.

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