ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1501+4A>G

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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 RCV003330065 SCV004037067 likely pathogenic Maturity onset diabetes mellitus in young 2022-11-01 criteria provided, single submitter clinical testing minigene showed effect on RNA splicing: in-frame skipping of exon 7 (r.1310_1501del, p.Gly437_His500del) as main transcript; and retention of the first 42 bp of intron 7 (r.1501_1502ins42, p.His500_Ala501ins(14)).:PS3 PM2 PP4

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