ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.801G>A (p.Trp267Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557794 SCV004295433 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with HNF1A-related conditions (PMID: 11272211). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp267*) in the HNF1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HNF1A are known to be pathogenic (PMID: 15928245, 18003757).

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