ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.252del (p.Ile85fs)

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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 RCV005137683 SCV005760484 pathogenic not provided 2024-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile85Serfs*70) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HNF1A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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