ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital RCV003330067 SCV004037070 likely pathogenic Maturity onset diabetes mellitus in young 2022-11-01 criteria provided, single submitter clinical testing minigene showed effect on RNA splicing: skipping of exon 8 (r.1624_1768del, p.Val542Lysfs*70) and skipping of both exons 8 and 9 (r.1502_1768del, p.Ala501_Thr589del). PS3 PM2

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