ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.482A>G (p.Lys161Arg)

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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 RCV003330073 SCV004037076 likely pathogenic Maturity onset diabetes mellitus in young 2022-11-01 criteria provided, single submitter clinical testing minigene showed effect on RNA splicing: exon 4 skipping (r.364_483del, p.Leu122_Lys161del) as major transcript and deletion of the last 24 bp of exon 4 as minor transcript (r.556_579del, p.Val154_Lys161del). PS3 PM2

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